ID   SDUBMSi002-A
AC   CVCL_YT39
DR   hPSCreg; SDUBMSi002-A
DR   SKIP; SKIP005689
DR   Wikidata; Q98129492
RX   PubMed=32078988;
CC   From: School of Basic Medical Sciences, Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2555; CUL4B; Simple; p.Arg388Ter (c.1162C>T) (c.1564C>T); ClinVar=VCV000011339; Zygosity=Hemizygous (PubMed=32078988).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C167216; Mental retardation, X-linked, syndromic, Cabezas type
DI   ORDO; Orphanet_85293; X-linked intellectual disability, Cabezas type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32078988; DOI=10.1016/j.scr.2020.101724;
RA   Liu X.-L., Yang X.-M., Li Y., Wang X.-J., Ma J., Jiang W., Liu Y.,
RA   Sun W.-J., Gong Y.-Q.;
RT   "Generation of patient-specific pluripotent induced stem cell line
RT   SDUBMSI002-A from a patient with X-linked mental retardation
RT   syndrome.";
RL   Stem Cell Res. 43:101724-101724(2020).
//