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!
Description
Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2021.102214