Cellosaurus cell line CAMi014-A (CVCL

Cellosaurus CAMi014-A (CVCL_A1NY)

Cross-references
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 Kosuke Yusa, S. Tamir Rashid, Helene Strick-Marchand, Ignacio Varela, Pei-Qi Liu, David E. Paschon, Elena Miranda, Adriana Ordonez, Nicholas R.F. Hannan, Foad J. Rouhani, Sylvie Darche ...Show all 20 authors... , Graeme Alexander, Stefan J. Marciniak, Noemi Fusaki, Mamoru Hasegawa, Michael C. Holmes, James P. Di Santo, David Arthur Lomas, Allan Bradley, Ludovic Vallier; Show fewer authors Targeted gene correction of alpha1-antitrypsin deficiency in induced pluripotent stem cells. Nature 478:391-394(2011)
Cell line databases/resources	hPSCreg; CAMi014-A
Biological sample resources	BioSamples; SAMEA7211861
Encyclopedic resources	Wikidata; Q102113655
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	8