ID   CAMi014-A
AC   CVCL_A1NY
SY   A1ATD1
DR   BioSamples; SAMEA7211861
DR   hPSCreg; CAMi014-A
DR   Wikidata; Q102113655
RX   PubMed=21993621;
CC   From: University of Cambridge; Cambridge; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (PubMed=21993621).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
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)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=21993621; DOI=10.1038/nature10424;
RA   Yusa K., Rashid S.T., Strick-Marchand H., Varela I., Liu P.-Q.,
RA   Paschon D.E., Miranda E., Ordonez A., Hannan N.R.F., Rouhani F.J.,
RA   Darche S., Alexander G., Marciniak S.J., Fusaki N., Hasegawa M.,
RA   Holmes M.C., Di Santo J.P., Lomas D.A., Bradley A., Vallier L.;
RT   "Targeted gene correction of alpha1-antitrypsin deficiency in induced
RT   pluripotent stem cells.";
RL   Nature 478:391-394(2011).
//