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Cellosaurus A1ATD patient 2 line 3 (CVCL_WV68)

[Text version]
Cell line name A1ATD patient 2 line 3
Accession CVCL_WV68
Resource Identification Initiative To cite this cell line use: A1ATD patient 2 line 3 (RRID:CVCL_WV68)
Comments Population: Caucasian.
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_WV66 ! A1ATD patient 2 line 1
CVCL_WV67 ! A1ATD patient 2 line 2
Sex of cell Male
Age at sampling 55Y
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)

Cross-references
Encyclopedic resources Wikidata; Q93311388
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number10