ID   LUMCi008-B
AC   CVCL_WR62
SY   LUMC0152iHD03; 152-3
DR   BioSamples; SAMEA6456126
DR   hPSCreg; LUMCi008-B
DR   Wikidata; Q95983453
RX   PubMed=31326748;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[46] (c.52CAG(46)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=31326748).
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)
OI   CVCL_WR61 ! LUMCi008-A
OI   CVCL_WR63 ! LUMCi008-C
SX   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=31326748; DOI=10.1016/j.scr.2019.101498;
RA   van der Graaf L.M., Gardiner S.L., Tok M., Brands T., Boogaard M.W.,
RA   Pepers B.A., Eussen B., de Klein A., Aziz N.A., Freund C.M.A.H.,
RA   Buijsen R.A.M., van Roon-Mom W.M.C.;
RT   "Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B
RT   and LUMCi008-A, B and C, from 2 patients with Huntington disease.";
RL   Stem Cell Res. 39:101498-101498(2019).
//