Cellosaurus logo
expasy logo

Cellosaurus GM12445 (CVCL_EF96)

[Text version]
Cell line name GM12445
Accession CVCL_EF96
Resource Identification Initiative To cite this cell line use: GM12445 (RRID:CVCL_EF96)
Comments Population: Caucasian.
Derived from site: In situ; Liver; UBERON=UBERON_0002107.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (Coriell=GM12445).
Disease Alpha-1 antitrypsin deficiency (NCIt: C84397)
Alpha-1 antitrypsin deficiency (ORDO: Orphanet_60)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM12445
Cell line databases/resources CLO; CLO_0019801
Encyclopedic resources Wikidata; Q54845759
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12