ID   SJTUi001-A
AC   CVCL_YR17
DR   hPSCreg; SJTUi001-A
DR   SKIP; SKIP005618
DR   Wikidata; Q98132640
RX   PubMed=32155459;
CC   From: Shanghai Jiao Tong University School of Medicine; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8980; PIK3R2; Simple; p.Arg89Cys (c.265C>T); ClinVar=VCV001534490; Zygosity=Heterozygous (PubMed=32155459).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=32155459
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 9,12
ST   D16S539: 9
ST   D21S11: 29,33.2
ST   D5S818: 10
ST   D7S820: 12
ST   TH01: 7,9.3
ST   TPOX: 8,10
ST   vWA: 14
DI   NCIt; C3020; Seizure disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32155459; DOI=10.1016/j.scr.2020.101711;
RA   Zhang B., Wang Y.-S., Peng J., Hao Y., Guan Y.-T.;
RT   "Generation of a human induced pluripotent stem cell line from an
RT   epilepsy patient carrying mutations in the PIK3R2 gene.";
RL   Stem Cell Res. 44:101711-101711(2020).
//