Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L.
Stem Cell Res
; 48: 101957, 2020 10.
Article
em En
| MEDLINE
| ID: mdl-32858485
ABSTRACT
Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC-5) is a dominantly inherited cardiomyopathy caused by the mutation TMEM43-p.S358L. An induced pluripotent stem cell (iPSC) line (HDZi001-A) from an adult male mutation carrier was generated, using the CytoTune Sendai Kit. The resulting iPSCs carried the mutation TMEM43-p.S358L, had a normal morphology, a stable karyotype and were positive for the expression of pluripotency markers. This iPSC line can be differentiated into the three germ layers and might be a useful model for the characterization of ARVC-5 associated pathomechanism.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Displasia Arritmogênica Ventricular Direita
/
Células-Tronco Pluripotentes Induzidas
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Alemanha