ID   HUSTTJi001-A
AC   CVCL_B3TA
DR   BioSamples; SAMEA9537268
DR   hPSCreg; HUSTTJi001-A
DR   Wikidata; Q110432900
RX   PubMed=34749017;
CC   From: Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology; Wuhan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 14539; RNF213; Simple; p.Arg4810Lys (c.14429G>A); ClinVar=VCV000039700; Zygosity=Heterozygous (PubMed=34749017).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C183312; Moyamoya disease 2
DI   ORDO; Orphanet_2573; Moyamoya disease
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 17-03-22; Version: 2
//
RX   PubMed=34749017; DOI=10.1016/j.scr.2021.102575;
RA   Mao Z.-J., Li Y.-J., Huang L.-J., Chen Y.-Q., Luo H.-M., Zhang S.-M.,
RA   Chen H.;
RT   "Generation of an induced pluripotent stem cell line HUSTTJi001-A from
RT   a Moyamoya disease patient with RNF213 gene mutation.";
RL   Stem Cell Res. 57:102575-102575(2021).
//