ID   CHDIi006-A
AC   CVCL_VC77
SY   #6c7; CHDI-90002154
DR   BioSamples; SAMEA1088039
DR   EBiSC; CHDIi006-A
DR   ECACC; 66541152
DR   hPSCreg; CHDIi006-A
DR   Wikidata; Q54811767
CC   From: CHDI Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[40] (c.52CAG(40)) (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   Male
AG   35-39Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 16-12-21; Version: 7
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