ID   SDQLCHi056-A
AC   CVCL_C8E0
DR   hPSCreg; SDQLCHi056-A
DR   Wikidata; Q123033464
RX   PubMed=37995436;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 11098; SMARCA2; Simple; p.Val1198Met (c.3592G>A); Zygosity=Heterozygous (PubMed=37995436).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C205644; Nicolaides-Baraitser syndrome
DI   ORDO; Orphanet_3051; Nicolaides-Baraitser syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 10-09-24; Version: 4
//
RX   PubMed=37995436; DOI=10.1016/j.scr.2023.103244;
RA   Yang X.-M., Yu C.-M., Gao M., Liu Y., Liu Y.-X.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line
RT   SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome
RT   carrying a mutation in SMARCA2 gene.";
RL   Stem Cell Res. 73:103244-103244(2023).
//