ID   CHDIi001-A
AC   CVCL_VC72
SY   #1C8; #1c8; CHDI-90002149
DR   BioSamples; SAMEA1088030
DR   EBiSC; CHDIi001-A
DR   ECACC; 66541147
DR   hPSCreg; CHDIi001-A
DR   Wikidata; Q54811762
CC   From: CHDI Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[41] (c.52CAG(41)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC).
CC   Miscellaneous: At sampling donor was not affected with Huntington disease but at significant risk for disease.
CC   Derived from sampling site: Cell type=Fibroblast.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 16-12-21; Version: 7
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