Cellosaurus cell line PiZZ2 (CVCL

Cellosaurus PiZZ2 (CVCL_D2XC)

Cross-references
Cell line name	PiZZ2
Synonyms	PiZZ2-5-Cr1
Accession	CVCL_D2XC
Resource Identification Initiative	To cite this cell line use: PiZZ2 (RRID:CVCL_D2XC)
Comments	From: Center for Regenerative Medicine; Boston; USA. Population: Caucasian. Omics: Transcriptomics; RNAseq. 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 (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)
Sex of cell	Male
Age at sampling	65Y
Category	Induced pluripotent stem cell
Web pages	Provider; CReM; 539; https://stemcellbank.bu.edu/Catalog/Item/Details/539
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)
Encyclopedic resources	Wikidata; Q127383080
Gene expression databases	GEO; GSM4182798 GEO; GSM4182810 GEO; GSM4182881
Entry history
Entry creation	30-Jan-2024
Last entry update	10-Apr-2025
Version number	4