ID   CBZ14
AC   CVCL_D2WW
DR   Wikidata; Q127380411
RX   PubMed=32619491;
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/556
CC   From: Boston University School of Medicine; Boston; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=32619491).
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   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=32619491; DOI=10.1016/j.stemcr.2020.06.006; PMCID=PMC7363960;
RA   Kaserman J.E., Hurley K., Dodge M., Villacorta-Martin C., Vedaie M.,
RA   Jean J.-C., Liberti D.C., James M.F., Higgins M.I., Lee N.J.,
RA   Washko G.R., San Jose Estepar R., Teckman J., Kotton D.N.,
RA   Wilson A.A.;
RT   "A highly phenotyped open access repository of alpha-1 antitrypsin
RT   deficiency pluripotent stem cells.";
RL   Stem Cell Reports 15:242-255(2020).
//