ID   KMUGMCi010-A
AC   CVCL_D6PR
SY   KN687B
DR   BioSamples; SAMEA115094052
DR   hPSCreg; KMUGMCi010-A
RX   PubMed=38492468;
CC   From: Kanazawa Medical University; Uchinada; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 11957; MED12; Simple; p.Arg296Gln (c.887G>A); ClinVar=VCV000522111; Zygosity=Hemizygous (PubMed=38492468).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206528; X-linked Ohdo syndrome
DI   ORDO; Orphanet_293707; Blepharophimosis-intellectual disability syndrome, MKB type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38492468; DOI=10.1016/j.scr.2024.103388;
RA   Ura H., Togi S., Hatanaka H., Niida Y.;
RT   "Establishment of a human induced pluripotent stem cell line,
RT   KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing
RT   missense mutation in the MED12 gene.";
RL   Stem Cell Res. 77:103388-103388(2024).
//