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Cellosaurus SDQLCHi045-A (CVCL_C1WE)

[Text version]
Cell line name SDQLCHi045-A
Accession CVCL_C1WE
Resource Identification Initiative To cite this cell line use: SDQLCHi045-A (RRID:CVCL_C1WE)
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:18040; ARID1B; Simple; p.Gln642Ter (c.1924C>T); Zygosity=Heterozygous (PubMed=36473251).
Disease Coffin-Siris syndrome (NCIt: C35321)
Coffin-Siris syndrome (ORDO: Orphanet_1465)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=36473251; DOI=10.1016/j.scr.2022.102982
Yang X.-M., Liu C., Zhang H.-Y., Lv Y.-Q., Li Y., Li Z.-L., Liu Y., Gai Z.-T.
Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene.
Stem Cell Res. 66:102982-102982(2023)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi045-A
Encyclopedic resources Wikidata; Q114312983
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5