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Cellosaurus GM22870 (CVCL_DB17)

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Cell line name GM22870
Accession CVCL_DB17
Resource Identification Initiative To cite this cell line use: GM22870 (RRID:CVCL_DB17)
Comments Population: Caucasian.
Donor information: Established from monozygotic twin of GM22256 (Cellosaurus=CVCL_DB16) and GM22871 (Cellosaurus=CVCL_DB18).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; c.1554-1009G>A (IVS9-1009G>A); ClinVar=VCV000553804; Zygosity=Heterozygous (Coriell=GM22870).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.His641Thrfs*2 (c.1920delG); ClinVar=VCV000281941; Zygosity=Heterozygous (Coriell=GM22870).
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)
Hierarchy Children:
CVCL_RM46 (NPC1-3#4)CVCL_RM47 (NPC1-3#47)
Originate from same individual CVCL_DB13 ! GM22227
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM22870
Encyclopedic resources Wikidata; Q54852813
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14