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Cellosaurus GM22227 (CVCL_DB13)

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Cell line name GM22227
Accession CVCL_DB13
Resource Identification Initiative To cite this cell line use: GM22227 (RRID:CVCL_DB13)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Donor information: Established from monozygotic twin of GM22256 (Cellosaurus=CVCL_DB16) and GM22871 (Cellosaurus=CVCL_DB18).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; c.1554-1009G>A (IVS9-1009G>A); ClinVar=VCV000553804; Zygosity=Heterozygous (Coriell=GM22227).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.His641Thrfs*2 (c.1920delG); ClinVar=VCV000281941; Zygosity=Heterozygous (Coriell=GM22227).
Disease Niemann-Pick disease, type C1 (NCIt: C126864)
Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_DB17 ! GM22870
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22227
Encyclopedic resources Wikidata; Q54852439
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14