Cellosaurus cell line SDUBMSi002-A (CVCL

Cross-references
Cell line name	SDUBMSi002-A
Accession	CVCL_YT39
Resource Identification Initiative	To cite this cell line use: SDUBMSi002-A (RRID:CVCL_YT39)
Comments	From: School of Basic Medical Sciences, 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.Arg388Ter (c.1162C>T) (c.1564C>T); ClinVar=VCV000011339; Zygosity=Hemizygous (PubMed=32078988).
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	15Y
Category	Induced pluripotent stem cell
Publications	PubMed=32078988; DOI=10.1016/j.scr.2020.101724 Liu X.-L., Yang X.-M., Li Y., Wang X.-J., Ma J., Jiang W., Liu Y., Sun W.-J., Gong Y.-Q. Generation of patient-specific pluripotent induced stem cell line SDUBMSI002-A from a patient with X-linked mental retardation syndrome. Stem Cell Res. 43:101724-101724(2020)
Cell line databases/resources	hPSCreg; SDUBMSi002-A SKIP; SKIP005689
Encyclopedic resources	Wikidata; Q98129492
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	7