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Cellosaurus GM02522 (CVCL_EF91)

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Cell line name GM02522
Accession CVCL_EF91
Resource Identification Initiative To cite this cell line use: GM02522 (RRID:CVCL_EF91)
Comments Population: Caucasian.
Derived from site: In situ; Abdomen, skin; UBERON=UBERON_0001416.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (Coriell=GM02522).
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 3M
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM02522
Cell line databases/resources CLO; CLO_0033239
Encyclopedic resources Wikidata; Q54837527
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13