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Cellosaurus PiZZ1-MM (CVCL_D2XA)

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Cell line name PiZZ1-MM
Synonyms PiZZ1 MM; PiZZ1-1-Cr4-MM1
Accession CVCL_D2XA
Resource Identification Initiative To cite this cell line use: PiZZ1-MM (RRID:CVCL_D2XA)
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_corrected; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=By CRISPR/Cas9. Z allele (PubMed=32619491).
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; 537; https://stemcellbank.bu.edu/Catalog/Item/Details/537
Publications

PubMed=32619491; DOI=10.1016/j.stemcr.2020.06.006; PMCID=PMC7363960
Joseph E. Kaserman, Killian Hurley, Mark Dodge, Carlos Villacorta-Martin, Marall Vedaie, Jyh-Chang Jean, Derek C. Liberti, Marianne F. James, Michelle I. Higgins, Nora J. Lee, George Richard Washko ...Show all 15 authors... , Raul San Jose Estepar, Jeffrey Teckman, Darrell N. Kotton, Andrew A. Wilson; Show fewer authors
A highly phenotyped open access repository of alpha-1 antitrypsin deficiency pluripotent stem cells.
Stem Cell Reports 15:242-255(2020)

Cross-references
Encyclopedic resources Wikidata; Q127383074
Entry history
Entry creation30-Jan-2024
Last entry update10-Apr-2025
Version number4