ID   SPPHIi002-A
AC   CVCL_A4CW
SY   SPPH-2; KY-4
DR   hPSCreg; SPPHIi002-A
DR   Wikidata; Q105511123
RX   PubMed=33429129;
CC   From: Sichuan Academy of Medical Science & Sichuan Provincial People's Hospital; Chengdu; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[59] (c.52CAG(59)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=33429129).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33429129; DOI=10.1016/j.scr.2020.102149;
RA   Li B., Ye F., Chen L., Yang X.-Y., Zhang J., Luo Y., Xu J., Luo Y.-J.,
RA   Wang S.;
RT   "Generation of two induced pluripotent stem cell lines SPPHi001-A and
RT   SPPHi002-A from a Huntington's disease family of Southwestern China.";
RL   Stem Cell Res. 50:102149-102149(2021).
//