Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation

Human-induced pluripotent stem cell lines (hiPSCs) derived from the peripheral blood mononuclear cells (PBMCs) of a woman (CMCi007-A) and her son (CMCi006-A) diagnosed with Fabry disease (FD) caused by the frameshift deletion mutation c.969delC in the alpha-galactosidase A (GLA) gene were generated....

Full description

Saved in:
Bibliographic Details
Published in:Stem cell research 2021-03, Vol.51, p.102214-102214, Article 102214
Main Authors: Cui, Sheng, Shin, Yoo Jin, Ko, Eun Jeong, Lim, Sun Woo, Ju, Ji Hyeon, Lee, Kang In, Lee, Jae Young, Yang, Chul Woo, Chung, Byung Ha
Format: Article
Language:English
Subjects:
Fabry disease
GLA gene
Human induced pluripotent stem cells
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by cdi_FETCH-LOGICAL-c462t-3fe230b9495999d431985f8056829c9654b0ef6589ff18ab1c9d30ff57e7945a3
cites cdi_FETCH-LOGICAL-c462t-3fe230b9495999d431985f8056829c9654b0ef6589ff18ab1c9d30ff57e7945a3
container_end_page 102214
container_issue
container_start_page 102214
container_title Stem cell research
container_volume 51
creator Cui, Sheng
Shin, Yoo Jin
Ko, Eun Jeong
Lim, Sun Woo
Ju, Ji Hyeon
Lee, Kang In
Lee, Jae Young
Yang, Chul Woo
Chung, Byung Ha
description Human-induced pluripotent stem cell lines (hiPSCs) derived from the peripheral blood mononuclear cells (PBMCs) of a woman (CMCi007-A) and her son (CMCi006-A) diagnosed with Fabry disease (FD) caused by the frameshift deletion mutation c.969delC in the alpha-galactosidase A (GLA) gene were generated. These hiPSCs showed typical human embryonic stem cell-like morphology and expressed pluripotency-associated markers, and directly differentiated into all three germ-layers. Karyotyping showed normal 46, XY (CMCi006-A) and 46, XX (CMCi007-A). In summary, we generated novel patient-specific hiPSC lines from both a female and male containing the same mutation, which may provide additional insight into the pathophysiology of FD.
doi_str_mv 10.1016/j.scr.2021.102214
format article
fullrecord <record><control><sourceid>proquest_doaj_</sourceid><recordid>TN_cdi_doaj_primary_oai_doaj_org_article_50da9ca66904439a80912be673068b54</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S187350612100060X</els_id><doaj_id>oai_doaj_org_article_50da9ca66904439a80912be673068b54</doaj_id><sourcerecordid>2487151257</sourcerecordid><originalsourceid>FETCH-LOGICAL-c462t-3fe230b9495999d431985f8056829c9654b0ef6589ff18ab1c9d30ff57e7945a3</originalsourceid><addsrcrecordid>eNp9kc1u1DAUhSMEoqXwAGyQl2WRwf-xxWo0orRSERtYW45z3fEoP4PtFM378KA4k9IlG_tc-9zP8j1V9Z7gDcFEfjpskosbiikpNaWEv6guiWpk3TSCvTxrVgssyUX1JqUDxkJTRV9XF4wJLiQnl9Wf23mwYx3GbnbQoWM_x3CcMowZpQwDctD3qA8jJHS9-7YLGMt6i-zYobVq6u1H5OM0IIs8DLaH8-VZHG0OC-h3yHt0Y9t4Ql1IYBMgZ2M8hfEB5T2gZAcojLKmffAZddBDDtOIhjnbRbytXnnbJ3j3tF9VP2--_Njd1vffv97ttve145LmmnmgDLeaa6G17jgjWgmvsJCKaqel4C0GL4XS3hNlW-J0x7D3ooFGc2HZVXW3crvJHswxhsHGk5lsMOeDKT4YG3NwPRiBO6udlVJjzpm2CmtCW5ANw1K1ghfW9co6xunXDCmbIaRlmnaEaU6GctUQQahoipWsVhenlCL456cJNkvQ5mBK0GYJ2qxBl54PT_i5HaB77viXbDF8Xg1QBvYYIBZESaOEHCK4XH4U_oP_C3CPttg</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2487151257</pqid></control><display><type>article</type><title>Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation</title><source>BACON - Elsevier - GLOBAL_SCIENCEDIRECT-OPENACCESS</source><creator>Cui, Sheng ; Shin, Yoo Jin ; Ko, Eun Jeong ; Lim, Sun Woo ; Ju, Ji Hyeon ; Lee, Kang In ; Lee, Jae Young ; Yang, Chul Woo ; Chung, Byung Ha</creator><creatorcontrib>Cui, Sheng ; Shin, Yoo Jin ; Ko, Eun Jeong ; Lim, Sun Woo ; Ju, Ji Hyeon ; Lee, Kang In ; Lee, Jae Young ; Yang, Chul Woo ; Chung, Byung Ha</creatorcontrib><description>Human-induced pluripotent stem cell lines (hiPSCs) derived from the peripheral blood mononuclear cells (PBMCs) of a woman (CMCi007-A) and her son (CMCi006-A) diagnosed with Fabry disease (FD) caused by the frameshift deletion mutation c.969delC in the alpha-galactosidase A (GLA) gene were generated. These hiPSCs showed typical human embryonic stem cell-like morphology and expressed pluripotency-associated markers, and directly differentiated into all three germ-layers. Karyotyping showed normal 46, XY (CMCi006-A) and 46, XX (CMCi007-A). In summary, we generated novel patient-specific hiPSC lines from both a female and male containing the same mutation, which may provide additional insight into the pathophysiology of FD.</description><identifier>ISSN: 1873-5061</identifier><identifier>EISSN: 1876-7753</identifier><identifier>DOI: 10.1016/j.scr.2021.102214</identifier><identifier>PMID: 33545641</identifier><language>eng</language><publisher>England: Elsevier B.V</publisher><subject>Fabry disease ; GLA gene ; Human induced pluripotent stem cells</subject><ispartof>Stem cell research, 2021-03, Vol.51, p.102214-102214, Article 102214</ispartof><rights>2021</rights><rights>Copyright © 2021. Published by Elsevier B.V.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c462t-3fe230b9495999d431985f8056829c9654b0ef6589ff18ab1c9d30ff57e7945a3</citedby><cites>FETCH-LOGICAL-c462t-3fe230b9495999d431985f8056829c9654b0ef6589ff18ab1c9d30ff57e7945a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33545641$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cui, Sheng</creatorcontrib><creatorcontrib>Shin, Yoo Jin</creatorcontrib><creatorcontrib>Ko, Eun Jeong</creatorcontrib><creatorcontrib>Lim, Sun Woo</creatorcontrib><creatorcontrib>Ju, Ji Hyeon</creatorcontrib><creatorcontrib>Lee, Kang In</creatorcontrib><creatorcontrib>Lee, Jae Young</creatorcontrib><creatorcontrib>Yang, Chul Woo</creatorcontrib><creatorcontrib>Chung, Byung Ha</creatorcontrib><title>Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation</title><title>Stem cell research</title><addtitle>Stem Cell Res</addtitle><description>Human-induced pluripotent stem cell lines (hiPSCs) derived from the peripheral blood mononuclear cells (PBMCs) of a woman (CMCi007-A) and her son (CMCi006-A) diagnosed with Fabry disease (FD) caused by the frameshift deletion mutation c.969delC in the alpha-galactosidase A (GLA) gene were generated. These hiPSCs showed typical human embryonic stem cell-like morphology and expressed pluripotency-associated markers, and directly differentiated into all three germ-layers. Karyotyping showed normal 46, XY (CMCi006-A) and 46, XX (CMCi007-A). In summary, we generated novel patient-specific hiPSC lines from both a female and male containing the same mutation, which may provide additional insight into the pathophysiology of FD.</description><subject>Fabry disease</subject><subject>GLA gene</subject><subject>Human induced pluripotent stem cells</subject><issn>1873-5061</issn><issn>1876-7753</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNp9kc1u1DAUhSMEoqXwAGyQl2WRwf-xxWo0orRSERtYW45z3fEoP4PtFM378KA4k9IlG_tc-9zP8j1V9Z7gDcFEfjpskosbiikpNaWEv6guiWpk3TSCvTxrVgssyUX1JqUDxkJTRV9XF4wJLiQnl9Wf23mwYx3GbnbQoWM_x3CcMowZpQwDctD3qA8jJHS9-7YLGMt6i-zYobVq6u1H5OM0IIs8DLaH8-VZHG0OC-h3yHt0Y9t4Ql1IYBMgZ2M8hfEB5T2gZAcojLKmffAZddBDDtOIhjnbRbytXnnbJ3j3tF9VP2--_Njd1vffv97ttve145LmmnmgDLeaa6G17jgjWgmvsJCKaqel4C0GL4XS3hNlW-J0x7D3ooFGc2HZVXW3crvJHswxhsHGk5lsMOeDKT4YG3NwPRiBO6udlVJjzpm2CmtCW5ANw1K1ghfW9co6xunXDCmbIaRlmnaEaU6GctUQQahoipWsVhenlCL456cJNkvQ5mBK0GYJ2qxBl54PT_i5HaB77viXbDF8Xg1QBvYYIBZESaOEHCK4XH4U_oP_C3CPttg</recordid><startdate>202103</startdate><enddate>202103</enddate><creator>Cui, Sheng</creator><creator>Shin, Yoo Jin</creator><creator>Ko, Eun Jeong</creator><creator>Lim, Sun Woo</creator><creator>Ju, Ji Hyeon</creator><creator>Lee, Kang In</creator><creator>Lee, Jae Young</creator><creator>Yang, Chul Woo</creator><creator>Chung, Byung Ha</creator><general>Elsevier B.V</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>DOA</scope></search><sort><creationdate>202103</creationdate><title>Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation</title><author>Cui, Sheng ; Shin, Yoo Jin ; Ko, Eun Jeong ; Lim, Sun Woo ; Ju, Ji Hyeon ; Lee, Kang In ; Lee, Jae Young ; Yang, Chul Woo ; Chung, Byung Ha</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c462t-3fe230b9495999d431985f8056829c9654b0ef6589ff18ab1c9d30ff57e7945a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Fabry disease</topic><topic>GLA gene</topic><topic>Human induced pluripotent stem cells</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cui, Sheng</creatorcontrib><creatorcontrib>Shin, Yoo Jin</creatorcontrib><creatorcontrib>Ko, Eun Jeong</creatorcontrib><creatorcontrib>Lim, Sun Woo</creatorcontrib><creatorcontrib>Ju, Ji Hyeon</creatorcontrib><creatorcontrib>Lee, Kang In</creatorcontrib><creatorcontrib>Lee, Jae Young</creatorcontrib><creatorcontrib>Yang, Chul Woo</creatorcontrib><creatorcontrib>Chung, Byung Ha</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Stem cell research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cui, Sheng</au><au>Shin, Yoo Jin</au><au>Ko, Eun Jeong</au><au>Lim, Sun Woo</au><au>Ju, Ji Hyeon</au><au>Lee, Kang In</au><au>Lee, Jae Young</au><au>Yang, Chul Woo</au><au>Chung, Byung Ha</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation</atitle><jtitle>Stem cell research</jtitle><addtitle>Stem Cell Res</addtitle><date>2021-03</date><risdate>2021</risdate><volume>51</volume><spage>102214</spage><epage>102214</epage><pages>102214-102214</pages><artnum>102214</artnum><issn>1873-5061</issn><eissn>1876-7753</eissn><abstract>Human-induced pluripotent stem cell lines (hiPSCs) derived from the peripheral blood mononuclear cells (PBMCs) of a woman (CMCi007-A) and her son (CMCi006-A) diagnosed with Fabry disease (FD) caused by the frameshift deletion mutation c.969delC in the alpha-galactosidase A (GLA) gene were generated. These hiPSCs showed typical human embryonic stem cell-like morphology and expressed pluripotency-associated markers, and directly differentiated into all three germ-layers. Karyotyping showed normal 46, XY (CMCi006-A) and 46, XX (CMCi007-A). In summary, we generated novel patient-specific hiPSC lines from both a female and male containing the same mutation, which may provide additional insight into the pathophysiology of FD.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>33545641</pmid><doi>10.1016/j.scr.2021.102214</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 1873-5061
ispartof Stem cell research, 2021-03, Vol.51, p.102214-102214, Article 102214
issn 1873-5061
1876-7753
language eng
recordid cdi_doaj_primary_oai_doaj_org_article_50da9ca66904439a80912be673068b54
source BACON - Elsevier - GLOBAL_SCIENCEDIRECT-OPENACCESS
subjects Fabry disease
GLA gene
Human induced pluripotent stem cells
title Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-24T23%3A12%3A06IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_doaj_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Human-induced%20pluripotent%20stem%20cell%20lines%20(CMCi006-A%20and%20CMCi007-A)%20from%20a%20female%20and%20male%20patient%20with%20Fabry%20disease%20carrying%20the%20same%20frameshift%20deletion%20mutation&rft.jtitle=Stem%20cell%20research&rft.au=Cui,%20Sheng&rft.date=2021-03&rft.volume=51&rft.spage=102214&rft.epage=102214&rft.pages=102214-102214&rft.artnum=102214&rft.issn=1873-5061&rft.eissn=1876-7753&rft_id=info:doi/10.1016/j.scr.2021.102214&rft_dat=%3Cproquest_doaj_%3E2487151257%3C/proquest_doaj_%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c462t-3fe230b9495999d431985f8056829c9654b0ef6589ff18ab1c9d30ff57e7945a3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2487151257&rft_id=info:pmid/33545641&rfr_iscdi=true