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Cellosaurus CAMi014-A (CVCL_A1NY)

[Text version]
Cell line name CAMi014-A
Synonyms A1ATD1
Accession CVCL_A1NY
Resource Identification Initiative To cite this cell line use: CAMi014-A (RRID:CVCL_A1NY)
Comments From: University of Cambridge; Cambridge; United Kingdom.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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=21993621).
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
Category Induced pluripotent stem cell
Publications

PubMed=21993621; DOI=10.1038/nature10424; PMCID=PMC3198846
Yusa K., Rashid S.T., Strick-Marchand H., Varela I., Liu P.-Q., Paschon D.E., Miranda E., Ordonez A., Hannan N.R.F., Rouhani F.J., Darche S., Alexander G., Marciniak S.J., Fusaki N., Hasegawa M., Holmes M.C., Di Santo J.P., Lomas D.A., Bradley A., Vallier L.
Targeted gene correction of alpha1-antitrypsin deficiency in induced pluripotent stem cells.
Nature 478:391-394(2011)

Cross-references
Cell line databases/resources hPSCreg; CAMi014-A
Biological sample resources BioSamples; SAMEA7211861
Encyclopedic resources Wikidata; Q102113655
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number8