ID   IIMCBi005-A
AC   CVCL_C1Q5
SY   EM-K3
DR   BioSamples; SAMEA111377735
DR   hPSCreg; IIMCBi005-A
DR   Wikidata; Q114311720
RX   PubMed=36228511;
CC   From: International Institute of Molecular and Cell Biology; Warsaw; Poland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[53] (c.52CAG(53)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=36228511).
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   34Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=36228511; DOI=10.1016/j.scr.2022.102931;
RA   Latoszek, Ewelina
RA   Piechota, Marta
RA   Liszewska, Ewa
RA   Hansikova, Hana
RA   Klempir, Jiri
RA   Muhlback, Alzbeta
RA   Landwehrmeyer, Georg Bernhard
RA   Kuznicki, Jacek
RA   Czeredys, Magdalena
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).
//