Generation of human induced pluripotent stem cell line MHHi029-A from a male Fabry disease patient carrying c.959A > T mutation.
Stem Cell Res
; 77: 103404, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38552356
ABSTRACT
Fabry disease (FD) is a rare and inherited monogenetic disease caused by mutations in the X-chromosomal alpha-galactosidase A gene GLA concomitant with accumulation of its substrate globotriaosylceramide (Gb3) and multi-organ symptoms. We derived an induced pluripotent stem cell line, MHHi029-A, from a male FD patient carrying a c.959A > T missense mutation in the GLA gene. The hiPSCs show a normal karyotype, expression of pluripotency markers and trilineage differentiation capacity. Importantly, they present the patient-specific mutation in the GLA gene and are therefore a valuable resource for investigating the FD mechanism and identifying novel therapies.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Fabry Disease
/
Alpha-Galactosidase
/
Induced Pluripotent Stem Cells
Limits:
Humans
/
Male
Language:
En
Journal:
Stem Cell Res
Year:
2024
Document type:
Article
Affiliation country:
Germany
Country of publication:
United kingdom