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Cellosaurus GM09551 (CVCL_AA80)

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Cell line name GM09551
Accession CVCL_AA80
Resource Identification Initiative To cite this cell line use: GM09551 (RRID:CVCL_AA80)
Comments Population: Caucasian; Italian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12530; UGT1A1; Simple; p.Tyr293Metfs*69 (c.877_890delTACATTAATGCTTCinsA) (p.Tyr292Metfs, c.874_887delTACATTAATGCTTCinsA) (879 del 13); ClinVar=VCV000012266; Zygosity=Homozygous (Coriell=GM09551).
Disease Crigler-Najjar syndrome (NCIt: C84656)
Crigler-Najjar syndrome (ORDO: Orphanet_205)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_WV70 (CN patient 1 line 1)CVCL_WV71 (CN patient 1 line 2)CVCL_WV72 (CN patient 1 line 3)
Sex of cell Male
Age at sampling 2M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM09551
Cell line databases/resources CLO; CLO_0011420
Encyclopedic resources Wikidata; Q54843842
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13