ID   GZWWTi001-A [2019]
AC   CVCL_YM90
SY   ASD1-iPSC
DR   SKIP; SKIP005594
DR   Wikidata; Q93935535
RX   PubMed=31698190;
CC   From: The Third Affiliated Hospital of Guangzhou Medical University; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:753; ASNS; Simple; p.Ala267Val (c.800C>T) (c.551C>T); Zygosity=Heterozygous (PubMed=31698190).
CC   Sequence variation: Mutation; HGNC; HGNC:753; ASNS; Simple; p.Tyr398Ser (c.1193A>C) (c.944A>C); ClinVar=VCV001456043; Zygosity=Heterozygous (PubMed=31698190).
CC   Caution: This group has named GZWWTi001-A two different iPSC cell lines.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168586; Asparagine synthetase deficiency
DI   ORDO; Orphanet_391376; Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=31698190; DOI=10.1016/j.scr.2019.101583;
RA   Xie Y.-J., Lu D., Wang D., Li S.-Y., Yang Y.-H., Liu N.-Q., Sun X.-F.;
RT   "Generation of four induced pluripotent stem cell lines, GZWWTi001-A,
RT   GZWTZi001-A, GZWXYi001-A, and GZWXDi001-A, derived from peripheral
RT   blood mononuclear cells from a family with asparagine synthetase
RT   deficiency.";
RL   Stem Cell Res. 41:101583-101583(2019).
//