ID   NH50329
AC   CVCL_B6HM
DR   NHCDR; NH50329
DR   Wikidata; Q112129424
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion_corrected; p.Gln18[179] (c.52CAG(179)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50329).
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_W577 ! ND36999
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 7
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