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Cellosaurus SDQLCHi015-A (CVCL_YK76)

[Text version]
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; 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
Guan J.-Y., Liu X.-L., Zhang H.-Y., Lv Y.-Q., Wang X.-Y., Yang X.-M., Ma Y.-Y., Liu Q.-J., Liu Y., Sun W.-J.
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)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi015-A
SKIP; SKIP005572
Encyclopedic resources Wikidata; Q98129477
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7