ID   FDCHi014-A
AC   CVCL_D6HZ
SY   iPSCx-y-NOVA2-m
DR   BioSamples; SAMEA115062566
DR   hPSCreg; FDCHi014-A
DR   Wikidata; Q127380845
RX   PubMed=38430735;
CC   From: Children's Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 7887; NOVA2; Simple; p.Cys209Alafs*187 (c.625delT); Zygosity=Heterozygous (PubMed=38430735).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C205642; Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y2M
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38430735; DOI=10.1016/j.scr.2024.103369;
RA   Yin T.-T., Qian Y.-Y., Zhang X., Liao Y.-F., Wu B.-B., Wang S.-J.,
RA   Wang H.-J.;
RT   "Derivation of an induced pluripotent stem cell line (FDCHi014-A) from
RT   PBMCs of a seven-year-old patient with a truncating NOVA2 variant
RT   (c.625del).";
RL   Stem Cell Res. 76:103369-103369(2024).
//