ID   HD28i.2
AC   CVCL_W585
DR   Wikidata; Q54882113
RX   PubMed=22748968;
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11118; SMN2; Extensive; Zygosity=Unspecified; Note=5 copies (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F173 ! GM03814
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 12
//
RX   PubMed=22748968; DOI=10.1016/j.stem.2012.04.027; PMCID=PMC3804072;
RG   HD iPSC Consortium;
RT   "Induced pluripotent stem cells from patients with Huntington's
RT   disease show CAG-repeat-expansion-associated phenotypes.";
RL   Cell Stem Cell 11:264-278(2012).
//