ID   PiZZ1-MZ
AC   CVCL_D2XB
SY   PiZZ1 MZ; PiZZ1-1-Cr4-MZ3-7
DR   Wikidata; Q127383075
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/536
CC   From: Boston University School of Medicine; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple_corrected; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Z allele (Boston University).
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Heterozygous; Note=Z allele (from parent cell line).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84397; Alpha-1 antitrypsin deficiency
DI   ORDO; Orphanet_60; Alpha-1 antitrypsin deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D2X8 ! PiZZ1
SX   Male
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 4
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