Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line.
Stem Cell Res
; 46: 101855, 2020 07.
Article
en En
| MEDLINE
| ID: mdl-32512309
ABSTRACT
Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe dysfunctions of thermoregulatory processes. CS/CISS2 individuals suffer from recurrent episodes of hyperthermia in the neonatal period and paradoxical sweating at cold ambient temperatures in adolescence. Variants in CLCF1 (cardiotrophin-like-cytokine 1) cause CS/CISS2. Here, we summarize the generation of three clones of one stem cell line (iPSC) of a CS/CISS2 individual carrying the CLCF1 variant c.321C>G on both alleles. These patient derived iPSC clones show a normal karyotype, several pluripotency markers, and the ability to differentiate into the three germ layers.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Células Madre Pluripotentes Inducidas
Límite:
Adolescent
/
Humans
/
Newborn
Idioma:
En
Revista:
Stem Cell Res
Año:
2020
Tipo del documento:
Article
País de afiliación:
Alemania