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Cellosaurus CIRA00153-18 (CVCL_C4NZ)

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Cell line name CIRA00153-18
Accession CVCL_C4NZ
Resource Identification Initiative To cite this cell line use: CIRA00153-18 (RRID:CVCL_C4NZ)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:1968; LYST; Simple; p.Ala40Glyfs*24 (c.118dupG) (c.118_119insG); ClinVar=VCV000003810; Zygosity=Heterozygous (PubMed=36259166).
Disease Chediak-Higashi syndrome (NCIt: C2941)
Chediak-Higashi syndrome (ORDO: Orphanet_167)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_CW70 (GM02075)
Sex of cell Female
Age at sampling 1Y6M
Category Induced pluripotent stem cell
Publications

PubMed=36259166; DOI=10.1111/ped.15390
Shigeharu Oh, Akira Niwa, Ayako Nagahashi, Isao Asaka, Tatsutoshi Nakahata, Megumu K. Saito;
iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells.
Pediatr. Int. 64:e15390.1-e15390.11(2022)

Cross-references
Encyclopedic resources Wikidata; Q116048769
Entry history
Entry creation15-Dec-2022
Last entry update19-Dec-2024
Version number4