Establishing a human-induced pluripotent stem cell line (SMUSHi003-A) from a patient with Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
Stem Cell Res
; 76: 103357, 2024 Apr.
Article
em En
| MEDLINE
| ID: mdl-38412658
ABSTRACT
INF2 mutations cause Charcot-Marie-Tooth disease (CMT), and /or focal segmental glomerulosclerosis (FSGS) in an autosomal dominant inheritance mode, whose underlying mechanism remainsunclear. Here, we report the generation of an iPSC line from a female patient with CMT and FSGS. The iPSC line from the patient's PBMCscarried aheterozygous INF2 deletion mutation (c.315_323delGCGCGCCGT) within the conserved E2. This line exhibited a normal karyotype, high expression of pluripotency markers, and trilineage differentiation potential. This line can be used to dissect the complex pathomechanism through further induction of differentiation into related cells and as a drug screening tool for INF2-associated diseases.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Glomerulosclerose Segmentar e Focal
/
Doença de Charcot-Marie-Tooth
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Células-Tronco Pluripotentes Induzidas
Limite:
Female
/
Humans
Idioma:
En
Revista:
Stem Cell Res
/
Stem cell research (Online)
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China