ID   ZJUi013-A
AC   CVCL_C9HU
DR   hPSCreg; ZJUi013-A
DR   Wikidata; Q123034005
RX   PubMed=37890330;
CC   From: Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 31750; SAMD12; Unexplicit; 5-BP INS, TTTCA(n) repeat expansion, IVS4; ClinVar=VCV000560216; Zygosity=Heterozygous (PubMed=37890330).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   ORDO; Orphanet_86814; Benign adult familial myoclonic epilepsy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
//
RX   PubMed=37890330; DOI=10.1016/j.scr.2023.103236;
RA   Zhang F., Chen S.-Q., Chen Y.-L., Chen X.-H., Cen Z.-D., Luo W.;
RT   "Generation of an induced pluripotent stem cell line (ZJUi013-A) from
RT   a familial cortical myoclonic tremor with epilepsy type 1 patient
RT   carrying (TTTCA)(n) insertion in the SAMD12 gene.";
RL   Stem Cell Res. 73:103236-103236(2023).
//