ID   NH50375
AC   CVCL_C0MF
DR   NHCDR; NH50375
DR   Wikidata; Q114312507
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion_corrected; p.Gln18[44] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50375).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_Y816 ! ND38547
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 30-01-24; Version: 5
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