Cellosaurus cell line SDQLCHi015-A (CVCL

Cross-references
Cell line name	SDQLCHi015-A
Accession	CVCL_YK76
Resource Identification Initiative	To cite this cell line use: SDQLCHi015-A (RRID:CVCL_YK76)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2555; CUL4B; Simple; p.Ile336Lysfs*2 (c.1007_1011delTTATA); ClinVar=VCV000426723; Zygosity=Hemizygous (PubMed=31678776).
Disease	Mental retardation, X-linked, syndromic, Cabezas type (NCIt: C167216) X-linked intellectual disability, Cabezas type (ORDO: Orphanet_85293)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	11M
Category	Induced pluripotent stem cell
Publications	PubMed=31678776; DOI=10.1016/j.scr.2019.101628 Jing-Yun Guan, Xiao-Lin Liu, Hai-Yan Zhang, Yu-Qiang Lv, Xiao-Jing Wang, Xiao-Meng Yang, Yan-Yan Ma, Qi-Ji Liu, Yi Liu, Wen-Jie Sun; Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene. Stem Cell Res. 41:101628-101628(2019)
Cell line databases/resources	hPSCreg; SDQLCHi015-A SKIP; SKIP005572
Encyclopedic resources	Wikidata; Q98129477
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8