ID   CET.IPS.FFALP1-500
AC   CVCL_B5V8
DR   Wikidata; Q111733094
RX   PubMed=30488785;
WW   Provider; CET; CR1014-500; https://cet.bio/product/human-alpha-1-anti-trypsin-deficiency-ips-cells/
WW   Provider; JP2MRI; -; https://www.jp2mri.org/alpha1-antitrypsin-deficiency-57
CC   From: Cellular Engineering Technologies (CET), Inc.; Coralville; USA.
CC   From: John Paul II Medical Research Institute; Coralville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (JP2MRI).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84397; Alpha-1 antitrypsin deficiency
DI   ORDO; Orphanet_60; Alpha-1 antitrypsin deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 10-04-25; Version: 7
//
RX   PubMed=30488785; DOI=10.2217/rme-2018-0041;
RA   Kamath A., Ternes S., McGowan S., Moy A.B.;
RT   "Virus-free and oncogene-free induced pluripotent stem cell
RT   reprogramming in cord blood and peripheral blood in patients with
RT   lung disease.";
RL   Regen. Med. 13:889-915(2018).
//