ID   BIHi033-A
AC   CVCL_C6TZ
SY   Chorea Huntington 3; CH3
DR   hPSCreg; BIHi033-A
DR   Wikidata; Q117704214
RX   PubMed=36434993;
CC   From: Berlin Institute of Health; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(41)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=36434993).
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   Male
AG   35-45Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36434993; DOI=10.1016/j.scr.2022.102976;
RA   Miller D.C., Lisowski P., Lickfett S., Mlody B., Bunning M.,
RA   Genehr C., Ulrich C., Wanker E.E., Diecke S., Priller J.,
RA   Prigione A.;
RT   "Generation of induced pluripotent stem cells from three individuals
RT   with Huntington's disease.";
RL   Stem Cell Res. 65:102976-102976(2022).
//