ID   IIMCBi008-A
AC   CVCL_C9EB
SY   jHD-V1
DR   BioSamples; SAMEA113940121
DR   hPSCreg; IIMCBi008-A
DR   Wikidata; Q123032671
RX   PubMed=37651831;
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[54] (c.52CAG(54)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=37651831).
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   30Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37651831; DOI=10.1016/j.scr.2023.103194;
RA   Piechota M., Latoszek E., Liszewska E., Hansikova H., Klempir J.,
RA   Muhlback A., Landwehrmeyer G.B., Kuznicki J., Czeredys M.;
RT   "Generation of two human iPSC lines from dermal fibroblasts of adult-
RT   and juvenile-onset Huntington's disease patients and two healthy
RT   donors.";
RL   Stem Cell Res. 71:103194-103194(2023).
//