ID   RCi004-B
AC   CVCL_9S48
SY   RCi68; PDSC-3
DR   BioSamples; SAMEA3106205
DR   EBiSC; RCi004-B
DR   ECACC; 66540014
DR   EGA; EGAS00001002755
DR   hPSCreg; RCi004-B
DR   SKIP; SKIP002479
DR   Wikidata; Q54949507
CC   From: Censo Biotechnologies, Ltd (Roslin Cells, Ltd); Roslin; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[~40] (c.52CAG(~40)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC=RCi004-B).
CC   Omics: Genome sequenced.
CC   Donor information: At sampling donor was not affected with Huntington's disease but at risk for disease (HTT has CAG repeat length greater than or equal to 36).
CC   Discontinued: ECACC; 66540014; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
OI   CVCL_9S47 ! RCi004-A
SX   Female
AG   45-49Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 17
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