ID   SHCDNi005-A
AC   CVCL_A7IQ
SY   SHCDN005
DR   hPSCreg; SHCDNi005-A
DR   Wikidata; Q107116920
RX   PubMed=34968892;
CC   From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 18060; ARX; Simple; p.Gln503Alafs*28 (c.1507_1508del); Zygosity=Hemizygous (PubMed=34968892).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179866; Developmental and epileptic encephalopathy 1
DI   ORDO; Orphanet_1934; Early infantile epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34968892; DOI=10.1016/j.scr.2021.102621;
RA   Wang C.-M., Wang Y.-L., Xu W.-H., Lin X.-F., Xi J.-M., Wang S.-M.,
RA   Lin L.-L., Yuan F., Wang A.-Q., Wang C., Luo X.-N., Xu Q.-M., Yin R.-R.,
RA   Zhang Y.-F., Huang X.-Y., Chen Y.-C.;
RT   "Generation of an induced pluripotent stem cell line from an Ohtahara
RT   syndrome patient with the hemizygous mutation p.Q503Afs*28
RT   (c.1507_1508del) in the ARX gene.";
RL   Stem Cell Res. 59:102621-102621(2022).
//