Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual.
Stem Cell Res
; 46: 101820, 2020 07.
Article
em En
| MEDLINE
| ID: mdl-32492556
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deformidades Congênitas da Mão
/
Células-Tronco Pluripotentes Induzidas
/
Hiperidrose
Limite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Alemanha