ID   SYSUi004-A
AC   CVCL_YT13
SY   SYSUi-004-A
DR   hPSCreg; SYSUi004-A
DR   SKIP; SKIP005745
DR   SKIP; SKIP005788
DR   Wikidata; Q98132954
RX   PubMed=32279010;
CC   From: Sun Yat-sen University; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 25598; TYW1; Simple; p.Arg206Cys (c.616C>T); Zygosity=Heterozygous (PubMed=32279010).
CC   Sequence variation: Mutation; HGNC; 25598; TYW1; Simple; p.Arg389Gln (c.1166G>A); Zygosity=Heterozygous (PubMed=32279010).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85874; Microcephaly
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32279010; DOI=10.1016/j.scr.2020.101783;
RA   Sun C.-B., Zhou P., Yuan S.-M., Guo R.-R., Zhang Z., Xu Q.-Y.,
RA   Han D.-D., He L., Tang H.-M., Xu K.-S., Hu H., Li N.;
RT   "Generation of an induced pluripotent stem cell line SYSUi-004-A from
RT   a child of microcephaly with TYW1 mutations.";
RL   Stem Cell Res. 45:101783-101783(2020).
//