ID   GM12445
AC   CVCL_EF96
DR   CLO; CLO_0019801
DR   Coriell; GM12445
DR   Wikidata; Q54845759
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (Coriell=GM12445).
CC   Derived from site: In situ; Liver; UBERON=UBERON_0002107.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84397; Alpha-1 antitrypsin deficiency
DI   ORDO; Orphanet_60; Alpha-1 antitrypsin deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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