Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations.
Stem Cell Res
; 40: 101552, 2019 10.
Article
en En
| MEDLINE
| ID: mdl-31493761
ABSTRACT
Mutations in PLA2G6 gene cause PLA2G6-associated neurodegeneration, including recessive familial type 14 of Parkinson's disease (PARK14). Previously, we identified PARK14 patients with compound heterozygous c.991Gâ¯>â¯T/c.1077Gâ¯>â¯A (p.D331Y/p.M358IfsX) mutations. The c.1077Gâ¯>â¯A mutation led to a four base-pairs deletion and frameshift mutation (p.M358IfsX) of PLA2G6 mRNA. We established induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a female patient with compound heterozygous c.991Gâ¯>â¯T/c.1077Gâ¯>â¯A (p.D331Y/ p.M358IfsX) mutations by using Sendai-virus delivery system. The iPSCs exhibited pluripotency and in vivo differentiation potential. The iPSCs can be used for studying the molecular pathogenic mechanism of PARK14.
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Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Parkinson
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Línea Celular
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Fosfolipasas A2 Grupo VI
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Células Madre Pluripotentes Inducidas
Idioma:
En
Revista:
Stem Cell Res
Año:
2019
Tipo del documento:
Article