ID   SHCDNi002-A
DR   BioSamples; SAMEA6878082
DR   hPSCreg; SHCDNi002-A
DR   SKIP; SKIP005751
DR   Wikidata; Q98132502
RX   PubMed=32505899;
CC   From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 11957; MED12; Simple; c.1249-1G>C; ClinVar=VCV001210232; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=32505899).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C171270; FG syndrome type 1
DI   ORDO; Orphanet_93932; FG syndrome type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
RX   PubMed=32505899; DOI=10.1016/j.scr.2020.101838;
RA   Wang Y.-L., Yuan F., Wang A.-Q., Wang C., Lin L.-L., Wang S.-M.,
RA   Wang C.-M., Luo X.-N., Xu Q.-M., Yin R.-R., Cheng H.-Y., Zhang Y.-F.,
RA   Sun X.-M., Xi J.-M., Yan J.-B., Zeng F.-Y., Chen Y.-C.;
RT   "Induced pluripotent stem cells (SHCDNi002-A cells) isolated from the
RT   peripheral blood mononuclear cells of a 1-year-old Chinese girl with
RT   mediator complex subunit 12-related syndrome.";
RL   Stem Cell Res. 46:101838-101838(2020).