ID   CHDIi005-A
AC   CVCL_VC76
SY   #5C4; #5c4; CHDI-90002153
DR   BioSamples; SAMEA1088037
DR   EBiSC; CHDIi005-A
DR   ECACC; 66541151
DR   hPSCreg; CHDIi005-A
DR   Wikidata; Q54811766
CC   From: CHDI Foundation; New York; USA.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[45] (c.52CAG(45)) (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: Fibroblast.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   30-34Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 20-05-21; Version: 6
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