ID   SHCMDLi001-A
AC   CVCL_A8PJ
DR   hPSCreg; SHCMDLi001-A
DR   Wikidata; Q108821300
RX   PubMed=34088006;
CC   From: Shanghai Children's Hospital; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 20456; TRAF7; Simple; p.Arg655Gln (c.1964G>A); ClinVar=VCV000587685; Zygosity=Heterozygous; Note=De novo mutation (PubMed=34088006).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179868; Cardiac, facial, and digital anomalies with developmental delay
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34088006; DOI=10.1016/j.scr.2021.102377;
RA   Song X.-Z., Feng J.-C., Lan X.-P., Tang X.-J., Xu W.-H., Shen J.,
RA   Yu G.-J., Jia J., Zhang H., Lu Q., Wu S.-N.;
RT   "Generation and characterization of an iPSC line (SHCMDLi001-A) from a
RT   12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC
RT   line (SHCMDLi002-A) from a control individual.";
RL   Stem Cell Res. 53:102377-102377(2021).
//