학술논문
Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
Document Type
article
Author
Source
Stem Cell Research, Vol 46, Iss , Pp 101820- (2020)
Subject
Language
English
ISSN
1873-5061
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.