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Cellosaurus GM12609 (CVCL_V448)

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Cell line name GM12609
Accession CVCL_V448
Resource Identification Initiative To cite this cell line use: GM12609 (RRID:CVCL_V448)
Comments Derived from site: In situ; Kidney; UBERON=UBERON_0002113.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Thr36Met (c.107C>T); ClinVar=VCV000004108; Zygosity=Unspecified (from autologous cell line GM12607).
  • Mutation; HGNC; HGNC:9016; PKHD1; Simple; p.Trp2736Gly (c.8206T>G); ClinVar=VCV000496527; Zygosity=Unspecified (from autologous cell line GM12607).
Disease Autosomal recessive polycystic kidney disease (NCIt: C84579)
Autosomal recessive polycystic kidney disease (ORDO: Orphanet_731)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_V447 ! GM12607
Sex of cell Female
Age at sampling 6D
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM12609
Cell line databases/resources CLO; CLO_0018084
Encyclopedic resources Wikidata; Q54845897
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15