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Cellosaurus SDQLCHi056-A (CVCL_C8E0)

[Text version]
Cell line name SDQLCHi056-A
Accession CVCL_C8E0
Resource Identification Initiative To cite this cell line use: SDQLCHi056-A (RRID:CVCL_C8E0)
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; 11098; SMARCA2; Simple; p.Val1198Met (c.3592G>A); Zygosity=Heterozygous (PubMed=37995436).
Disease Nicolaides-Baraitser syndrome (NCIt: C205644)
Nicolaides-Baraitser syndrome (ORDO: Orphanet_3051)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=37995436; DOI=10.1016/j.scr.2023.103244
Yang X.-M., Yu C.-M., Gao M., Liu Y., Liu Y.-X.
Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene.
Stem Cell Res. 73:103244-103244(2023)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi056-A
Encyclopedic resources Wikidata; Q123033464
Entry history
Entry creation29-Jun-2023
Last entry update10-Sep-2024
Version number4