ID   A1ATD patient 2 line 1
AC   CVCL_WV66
DR   Wikidata; Q93311384
RX   PubMed=20739751;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=20739751).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84397; Alpha-1 antitrypsin deficiency
DI   ORDO; Orphanet_60; Alpha-1 antitrypsin deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WV67 ! A1ATD patient 2 line 2
OI   CVCL_WV68 ! A1ATD patient 2 line 3
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=20739751; DOI=10.1172/JCI43122; PMCID=PMC2929734;
RA   Rashid S.T., Corbineau S., Hannan N., Marciniak S.J., Miranda E.,
RA   Alexander G., Huang-Doran I., Griffin J.L., Ahrlund-Richter L.,
RA   Skepper J., Semple R., Weber A., Lomas D.A., Vallier L.;
RT   "Modeling inherited metabolic disorders of the liver using human
RT   induced pluripotent stem cells.";
RL   J. Clin. Invest. 120:3127-3136(2010).
//