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Cellosaurus GM27987 (CVCL_C7LK)

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Cell line name GM27987
Accession CVCL_C7LK
Resource Identification Initiative To cite this cell line use: GM27987 (RRID:CVCL_C7LK)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7027; MERTK; Simple; p.Ala258Glu (c.773C>A); ClinVar=VCV000330747; Zygosity=Heterozygous (Coriell=GM27987).
  • Mutation; HGNC; HGNC:15446; PRPF31; Simple; p.Gln389Ter (c.1165C>T); ClinVar=VCV001297104; Zygosity=Heterozygous (Coriell=GM27987).
  • Mutation; HGNC; HGNC:28396; TMEM67; Simple; p.Gly195Ilefs*13 (c.579_580delAG); ClinVar=VCV000056783; Zygosity=Heterozygous (Coriell=GM27987).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 21Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27987
Encyclopedic resources Wikidata; Q117704362
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4