ID   chHES-458
AC   CVCL_A4GE
DR   Wikidata; Q105506607
RX   PubMed=27934595;
CC   From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[52] (c.52CAG(52)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=27934595).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=27934595; DOI=10.1016/j.scr.2016.11.002;
RA   Xie P.-Y., Sun Y.-F., Zhou X.-Y., Chen J., Du J., Sun Y., Lu G.-X.,
RA   Lin G., Ouyang Q.;
RT   "Generation of human embryonic stem cell line chHES-458 from abnormal
RT   embryos with HTT gene mutation.";
RL   Stem Cell Res. 17:627-629(2016).
//