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Cellosaurus PiZZ1-MAN1B1del (CVCL_D2X9)

[Text version]
Cell line name PiZZ1-MAN1B1del
Accession CVCL_D2X9
Resource Identification Initiative To cite this cell line use: PiZZ1-MAN1B1del (RRID:CVCL_D2X9)
Comments From: Boston University School of Medicine; Boston; USA.
Population: Caucasian.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:6823; MAN1B1.
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=Homozygous; Note=Z allele (from parent cell line).
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 https://stemcellbank.bu.edu/Catalog/Item/Details/538
Cross-references
Encyclopedic resources Wikidata; Q127383073
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3