Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual

Cytokine receptor like factor 1 (CRLF1) is the gene implicated, when mutated, in Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1). Here, we report the establishment of induced pluripotent stem cell lines (iPSCs) from fibroblasts of a Turkish CS/CISS1 individual with a homozygous va...

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Published in:Stem cell research 2020-07, Vol.46, p.101820-101820, Article 101820
Main Authors: Schöning, Lara, Loges, Niki Tomas, Nitschke, Yvonne, Höben, Inga Marlena, Röpke, Albrecht, Crisponi, Laura, Omran, Heymut, Rutsch, Frank, Buers, Insa
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container_title Stem cell research
container_volume 46
creator Schöning, Lara
Loges, Niki Tomas
Nitschke, Yvonne
Höben, Inga Marlena
Röpke, Albrecht
Crisponi, Laura
Omran, Heymut
Rutsch, Frank
Buers, Insa
description Cytokine receptor like factor 1 (CRLF1) is the gene implicated, when mutated, in Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1). Here, we report the establishment of induced pluripotent stem cell lines (iPSCs) from fibroblasts of a Turkish CS/CISS1 individual with a homozygous variant in CRLF1 (c.708_709delinsT; p.[Pro238Argfs*6]). This variant is the most frequent variant associated to CS/CISS1 in the Turkish population. These patient derived iPSC lines show all pluripotency markers, a normal karyotype and the ability to differentiate into the three germ layers.
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title Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
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