Cellosaurus cell line PiZZ100-MM (CVCL

Cellosaurus PiZZ100-MM (CVCL_D2XI)

Cross-references
Cell line name	PiZZ100-MM
Synonyms	100-3-Cr1-MM56
Accession	CVCL_D2XI
Resource Identification Initiative	To cite this cell line use: PiZZ100-MM (RRID:CVCL_D2XI)
Comments	From: Center for Regenerative Medicine; Boston; USA. Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
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_C933 (RC2 100 3 Cr-1)
Sex of cell	Female
Age at sampling	67Y
Category	Induced pluripotent stem cell
Web pages	Provider; CReM; 520; https://stemcellbank.bu.edu/Catalog/Item/Details/520
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; Q127383076
Entry history
Entry creation	30-Jan-2024
Last entry update	10-Apr-2025
Version number	4