ID   BIHi035-A
AC   CVCL_D0QS
SY   HD180
DR   BioSamples; SAMEA13371752
DR   hPSCreg; BIHi035-A
DR   Wikidata; Q123030790
RX   PubMed=36863131;
CC   From: Berlin Institute of Health; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[179] (c.52CAG(179)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=36863131).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
HI   CVCL_W576 ! GM09197
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=36863131; DOI=10.1016/j.scr.2023.103056;
RA   Miller D.C., Lisowski P., Genehr C., Wanker E.E., Priller J.,
RA   Prigione A., Diecke S.;
RT   "Generation of an induced pluripotent stem cell line from a
RT   Huntington's disease patient with a long HTT-polyQ sequence.";
RL   Stem Cell Res. 68:103056-103056(2023).
//