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Cellosaurus GM26113 (CVCL_A2VE)

[Text version]
Cell line name GM26113
Accession CVCL_A2VE
Resource Identification Initiative To cite this cell line use: GM26113 (RRID:CVCL_A2VE)
Comments Population: Indian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8967; PIGN; Simple; c.1434_c.1434+1delGGinsAA; ClinVar=VCV000280280; Zygosity=Homozygous; Note=Causes abnormal splicing (Coriell=GM26113).
  • Mutation; HGNC; HGNC:10485; RYR3; Simple; p.Arg1521Ser (c.4562G>C); Zygosity=Heterozygous (Coriell=GM26113).
  • Mutation; HGNC; HGNC:10485; RYR3; Simple; p.Glu4130Ala (c.12389A>C); Zygosity=Heterozygous (Coriell=GM26113).
Disease Multiple congenital anomalies-hypotonia-seizures syndrome 1 (NCIt: C176896)
Multiple congenital anomalies-hypotonia-seizures syndrome (ORDO: Orphanet_280633)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26113
Encyclopedic resources Wikidata; Q105506984
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7