ID   A1ATD patient 1 line 1
AC   CVCL_WV63
SY   A1ATD-iPSC patient 1; BOB
DR   Wikidata; Q93311378
RX   PubMed=20739751;
RX   PubMed=30784590;
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   Omics: Transcriptome analysis by microarray.
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_WV64 ! A1ATD patient 1 line 2
OI   CVCL_WV65 ! A1ATD patient 1 line 3
SX   Male
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 10
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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).
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RX   PubMed=30784590; DOI=10.1016/j.celrep.2019.01.094; PMCID=PMC6381787;
RA   Vigilante A., Laddach A., Moens N., Meleckyte R., Leha A.,
RA   Ghahramani A., Culley O.J., Kathuria A., Hurling C., Vickers A.,
RA   Wiseman E., Tewary M., Zandstra P.W., Durbin R., Fraternali F.,
RA   Stegle O., Birney E., Luscombe N.M., Danovi D., Watt F.M.;
RT   "Identifying extrinsic versus intrinsic drivers of variation in cell
RT   behavior in human iPSC lines from healthy donors.";
RG   HipSci Consortium;
RL   Cell Rep. 26:2078-2087.e3(2019).
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