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

从 Crisponi/冷诱发出汗综合征 1 型患者中生成诱导性多能干细胞系

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作者:Lara Schöning, Niki Tomas Loges, Yvonne Nitschke, Inga Marlena Höben, Albrecht Röpke, Laura Crisponi, Heymut Omran, Frank Rutsch, Insa Buers

Abstract

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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