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Cellosaurus GM13425 (CVCL_AN08)

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Cell line name GM13425
Accession CVCL_AN08
Resource Identification Initiative To cite this cell line use: GM13425 (RRID:CVCL_AN08)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:9081; PLOD1; Simple; p.Glu532del (c.1594_1596delGAG); ClinVar=VCV000014367; Zygosity=Heterozygous (Coriell=GM13425).
  • Mutation; HGNC; HGNC:9081; PLOD1; Simple; p.Gly678Arg (c.2032G>A); ClinVar=VCV000014366; Zygosity=Heterozygous (Coriell=GM13425).
Disease Ehlers-Danlos syndrome, type VI (NCIt: C125700)
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency (ORDO: Orphanet_1900)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM13425
Cell line databases/resources CLO; CLO_0012644
Biological sample resources BioSample; SAMN00802360
Encyclopedic resources Wikidata; Q54846517
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number17