Generation of an induced pluripotent stem cell line from a Huntington's disease patient with a long HTT-PolyQ sequence.
Stem Cell Res
; 68: 103056, 2023 04.
Article
in En
| MEDLINE
| ID: mdl-36863131
ABSTRACT
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an abnormal length of CAG repeats in the gene HTT, leading to an elongated poly-glutamine (poly-Q) sequence in huntingtin (HTT). We used non-integrative Sendai virus to reprogram fibroblasts from a patient with juvenile onset HD to induced pluripotent stem cells (iPSCs). Reprogrammed iPSCs expressed pluripotency-associated markers, exhibited a normal karyotype, and following directed differentiation generated cell types belonging to the three germ layers. PCR analysis and sequencing confirmed the HD patient-derived iPSC line had one normal HTT allele and one with elongated CAG repeats, equivalent to ≥180Q.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Huntington Disease
/
Induced Pluripotent Stem Cells
Limits:
Humans
Language:
En
Journal:
Stem Cell Res
Year:
2023
Document type:
Article
Affiliation country: