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Cellosaurus SDUBMSi002-A (CVCL_YT39)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; SDUBMSi002-A
SKIP; SKIP005689
Encyclopedic resources Wikidata; Q98129492
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6