ID   SDQLCHi015-A
AC   CVCL_YK76
DR   hPSCreg; SDQLCHi015-A
DR   SKIP; SKIP005572
DR   Wikidata; Q98129477
RX   PubMed=31678776;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:2555; CUL4B; Simple; p.Ile336Lysfs*2 (c.1007_1011delTTATA); ClinVar=VCV000426723; Zygosity=Hemizygous (PubMed=31678776).
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   11M
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=31678776; DOI=10.1016/j.scr.2019.101628;
RA   Guan J.-Y., Liu X.-L., Zhang H.-Y., Lv Y.-Q., Wang X.-Y., Yang X.-M.,
RA   Ma Y.-Y., Liu Q.-J., Liu Y., Sun W.-J.;
RT   "Generation of an iPSC line (SDQLCHi015-A) from peripheral blood
RT   mononuclear cells of a patient with mental retardation type 15
RT   carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene.";
RL   Stem Cell Res. 41:101628-101628(2019).
//