ID   IIMCBi004-A
AC   CVCL_C1Q4
SY   PM-H1
DR   BioSamples; SAMEA111377295
DR   hPSCreg; IIMCBi004-A
DR   Wikidata; Q114311719
RX   PubMed=36228511;
CC   From: International Institute of Molecular and Cell Biology; Warsaw; Poland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[41] (c.52CAG(41)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=36228511).
CC   Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
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)
SX   Female
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 05-10-23; Version: 5
//
RX   PubMed=36228511; DOI=10.1016/j.scr.2022.102931;
RA   Latoszek E., Piechota M., Liszewska E., Hansikova H., Klempir J.,
RA   Muhlback A., Landwehrmeyer G.B., Kuznicki J., Czeredys M.;
RT   "Generation of three human iPSC lines from patients with Huntington's
RT   disease with different CAG lengths and human control iPSC line from a
RT   healthy donor.";
RL   Stem Cell Res. 64:102931-102931(2022).
//