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Cellosaurus PiZZ1-MZ (CVCL_D2XB)

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Cell line name PiZZ1-MZ
Synonyms PiZZ1 MZ; PiZZ1-1-Cr4-MZ3-7
Accession CVCL_D2XB
Resource Identification Initiative To cite this cell line use: PiZZ1-MZ (RRID:CVCL_D2XB)
Comments From: Center for Regenerative Medicine; Boston; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Heterozygous; Note=Z allele (from parent cell line).
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple_corrected; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Z allele (Boston University).
Disease Alpha-1 antitrypsin deficiency (NCIt: C84397)
Alpha-1 antitrypsin deficiency (ORDO: Orphanet_60)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D2X8 (PiZZ1)
Sex of cell Male
Age at sampling 44Y
Category Induced pluripotent stem cell
Web pages Provider; CReM; 536; https://stemcellbank.bu.edu/Catalog/Item/Details/536
Cross-references
Encyclopedic resources Wikidata; Q127383075
Entry history
Entry creation30-Jan-2024
Last entry update10-Apr-2025
Version number5