ID   RC2 100 3 Cr-6
AC   CVCL_C934
SY   RC2 100-3-Cr-6; 100 3Cr-6; 100-3-Cr6; iPS AAT #100-3Cr-6
DR   Wikidata; Q54949421
RX   PubMed=20715179;
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/521
CC   From: Boston University School of Medicine; Boston; 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 (PubMed=20715179).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
HI   CVCL_C932 ! RC2 100 3
SX   Female
AG   67Y
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 18
//
RX   PubMed=20715179; DOI=10.1002/stem.495; PMCID=PMC3422663;
RA   Somers A., Jean J.-C., Sommer C.A., Omari A., Ford C.C., Mills J.A.,
RA   Ying L., Gianotti-Sommer A., Jean J.M., Smith B.W., Lafyatis R.,
RA   Demierre M.-F., Weiss D.J., French D.L., Gadue P., Murphy G.J.,
RA   Mostoslavsky G., Kotton D.N.;
RT   "Generation of transgene-free lung disease-specific human induced
RT   pluripotent stem cells using a single excisable lentiviral stem cell
RT   cassette.";
RL   Stem Cells 28:1728-1740(2010).
//