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Cellosaurus PiMZ1 (CVCL_D2X3)

[Text version]
Cell line name PiMZ1
Accession CVCL_D2X3
Resource Identification Initiative To cite this cell line use: PiMZ1 (RRID:CVCL_D2X3)
Comments From: Boston University School of 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 (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)
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/533
Cross-references
Encyclopedic resources Wikidata; Q127383067
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number4