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Cellosaurus CET.IPS.FFALP1-500 (CVCL_B5V8)

[Text version]
Cell line name CET.IPS.FFALP1-500
Accession CVCL_B5V8
Resource Identification Initiative To cite this cell line use: CET.IPS.FFALP1-500 (RRID:CVCL_B5V8)
Comments From: Cellular Engineering Technologies (CET), Inc.; Coralville; USA.
From: John Paul II Medical Research Institute; Coralville; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (JP2MRI).
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 Female
Age at sampling 57Y
Category Induced pluripotent stem cell
Web pages https://www.jp2mri.org/alpha1-antitrypsin-deficiency-57
Publications

PubMed=30488785; DOI=10.2217/rme-2018-0041
Kamath A., Ternes S., McGowan S., Moy A.B.
Virus-free and oncogene-free induced pluripotent stem cell reprogramming in cord blood and peripheral blood in patients with lung disease.
Regen. Med. 13:889-915(2018)

Cross-references
Encyclopedic resources Wikidata; Q111733094
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6