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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: Transcriptome analysis by 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
Rashid S.T., Corbineau S., Hannan N., Marciniak S.J., Miranda E., Alexander G., Huang-Doran I., Griffin J.L., Ahrlund-Richter L., Skepper J., Semple R., Weber A., Lomas D.A., Vallier L.
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
Vigilante A., Laddach A., Moens N., Meleckyte R., Leha A., Ghahramani A., Culley O.J., Kathuria A., Hurling C., Vickers A., Wiseman E., Tewary M., Zandstra P.W., Durbin R., Fraternali F., Stegle O., Birney E., Luscombe N.M., Danovi D., Watt F.M.
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 update19-Dec-2024
Version number10