ID   ZJSHDPi001-A
AC   CVCL_C8D1
SY   ZJSH-FGF12
DR   hPSCreg; ZJSHDPi001-A
DR   Wikidata; Q123034004
RX   PubMed=37331110;
CC   From: Department of Pediatrics, The Second Affiliated Hospital of Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3668; FGF12; Simple; p.Gly112Ser (c.334G>A) (p.Gly50Ser, c.148G>A); ClinVar=VCV000522854; Zygosity=Heterozygous (PubMed=37331110).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201514; Developmental and epileptic encephalopathy 47
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 30-01-24; Version: 3
//
RX   PubMed=37331110; DOI=10.1016/j.scr.2023.103127;
RA   Gao L.-Y., Shi X.-L., Su G.-F., Guo Y.-F., Lou Y.-T., Wang Y., Miao P.,
RA   Feng J.-H.;
RT   "Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood
RT   mononuclear cells of a patient with developmental epileptic
RT   encephalopathy-47 carrying FGF12 gene mutation (c.334G > A).";
RL   Stem Cell Res. 71:103127-103127(2023).
//