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Cellosaurus CHCMUi002-A (CVCL_C9Z7)

[Text version]
Cell line name CHCMUi002-A
Accession CVCL_C9Z7
Resource Identification Initiative To cite this cell line use: CHCMUi002-A (RRID:CVCL_C9Z7)
Comments From: Children's hospital of Chongqing Medical University; Chongqing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2578; CYBB; Simple; c.785_786delTT; Zygosity=Hemizygous (PubMed=38134578).
Disease Chronic granulomatous disease (NCIt: C26788)
Chronic granulomatous disease (ORDO: Orphanet_379)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=38134578; DOI=10.1016/j.scr.2023.103269
Zeng A.-L., Ni K., Fang S.-Y., Yu L., Gao Y.-L., Zhou L.-N., Zhao X.-D.
Generation of a human iPSC line (CHCMUi002-A) from peripheral blood mononuclear cells from a chronic granulomatous disease patient.
Stem Cell Res. 74:103269-103269(2024)

Cross-references
Cell line databases/resources hPSCreg; CHCMUi002-A
Biological sample resources BioSamples; SAMEA113595353
Encyclopedic resources Wikidata; Q123030909
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3