ID   ATCi002-A
AC   CVCL_B6RJ
DR   BioSamples; SAMEA12057079
DR   hPSCreg; ATCi002-A
DR   Wikidata; Q111732944
RX   PubMed=35168097;
CC   From: Aegicare (Shenzhen) Technology Co; Shenzhen; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 4452; GPC4; Simple; c.877+1G>A; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=35168097).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C186306; Keipert syndrome
DI   ORDO; Orphanet_2662; Keipert syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35168097; DOI=10.1016/j.scr.2022.102706;
RA   Lu X.-G., Mai J.-H., Liu L.-Q., Chen X.-Y., Shen Y.-S.;
RT   "Generation of an induced pluripotent stem cell line ATCi002-A from a
RT   two-year-old Chinese boy with Keipert syndrome.";
RL   Stem Cell Res. 60:102706-102706(2022).
//