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Cellosaurus GM28019 (CVCL_A5MA)

[Text version]
Cell line name GM28019
Accession CVCL_A5MA
Resource Identification Initiative To cite this cell line use: GM28019 (RRID:CVCL_A5MA)
Comments Population: Caucasian; Dutch.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Glu1366Lys (c.4096G>A); ClinVar=VCV000200036; Zygosity=Heterozygous (Coriell=GM28019).
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Leu90Pro (c.269T>C); ClinVar=VCV000381516; Zygosity=Heterozygous (Coriell=GM28019).
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Leu105Ter (c.312_321del10insAT) (p.Pro104_Leu105insTer); ClinVar=VCV000215237; Zygosity=Heterozygous (Coriell=GM28019).
Disease Leigh disease (NCIt: C84814)
Marfan syndrome (NCIt: C34807)
Mitochondrial complex IV deficiency, nuclear type 1 (NCIt: C176895)
Leigh syndrome (ORDO: Orphanet_506)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 15Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28019
Encyclopedic resources Wikidata; Q107115195
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number7