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Cellosaurus A1ATD patient 1 line 1 (CVCL_WV63)

[Text version]
Cell line name A1ATD patient 1 line 1
Synonyms A1ATD-iPSC patient 1; BOB
Accession CVCL_WV63
Resource Identification Initiative To cite this cell line use: A1ATD patient 1 line 1 (RRID:CVCL_WV63)
Comments Population: Caucasian.
Omics: Transcriptomics; Microarray.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=20739751).
Disease Alpha-1 antitrypsin deficiency (NCIt: C84397)
Alpha-1 antitrypsin deficiency (ORDO: Orphanet_60)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WV64 ! A1ATD patient 1 line 2
CVCL_WV65 ! A1ATD patient 1 line 3
Sex of cell Male
Age at sampling 65Y
Category Induced pluripotent stem cell
Publications

PubMed=20739751; DOI=10.1172/JCI43122; PMCID=PMC2929734
S. Tamir Rashid, Sebastien Corbineau, Nick Hannan, Stefan J. Marciniak, Elena Miranda, Graeme Alexander, Isabel Huang-Doran, Julian L. Griffin, Lars Ahrlund-Richter, Jeremy Skepper, Robert Semple ...Show all 14 authors... , Anne Weber, David A. Lomas, Ludovic Vallier; Show fewer authors
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.
J. Clin. Invest. 120:3127-3136(2010)

PubMed=30784590; DOI=10.1016/j.celrep.2019.01.094; PMCID=PMC6381787
Alessandra Vigilante, Anna Laddach, Nathalie Moens, Ruta Meleckyte, Andreas Leha, Arsham Ghahramani, Oliver J. Culley, Annie Kathuria, Chloe Hurling, Alice Vickers, Erika Wiseman ...Show all 20 authors... , Mukul Tewary, Peter W. Zandstra, Richard Durbin, Franca Fraternali, Oliver Stegle, Ewan Birney, Nicholas M. Luscombe, Davide Danovi, Fiona Mary Watt; Show fewer authors
HipSci Consortium
Identifying extrinsic versus intrinsic drivers of variation in cell behavior in human iPSC lines from healthy donors.
Cell Rep. 26:2078-2087.e3(2019)

Cross-references
Encyclopedic resources Wikidata; Q93311378
Entry history
Entry creation05-Jul-2019
Last entry update10-Apr-2025
Version number11