Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
Summary
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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Schöning L, Loges NT, Nitschke Y, Höben IM, Röpke A, Crisponi L, Omran H, Rutsch F, Buers I |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Jul;46:101820 |
| PubMed | 32492556 |
| DOI | 10.1016/j.scr.2020.101820 |