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Cellosaurus CIRA00150-22 (CVCL_C4NY)

[Text version]
Cell line name CIRA00150-22
Accession CVCL_C4NY
Resource Identification Initiative To cite this cell line use: CIRA00150-22 (RRID:CVCL_C4NY)
Comments Population: Japanese.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:1968; LYST; Simple; p.Val1316fs (c.3944dupC) (p.Thr1315fs*17) (c.3944_3945insC); ClinVar=VCV000180624; 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)
Originate from same individual CVCL_C4NX ! CIRA00150-19
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=36259166; DOI=10.1111/ped.15390
Oh S., Niwa A., Nagahashi A., Asaka I., Nakahata T., Saito M.K.
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; Q116048768
Entry history
Entry creation15-Dec-2022
Last entry update19-Dec-2024
Version number4