ID   RC2 100 3 Cr-1
AC   CVCL_C933
SY   100 3Cr-1; iPS AAT #100-3Cr-1; 100-3-Cr1; 100-3; PiZZ100
DR   GEO; GSM4182788
DR   GEO; GSM4182800
DR   GEO; GSM4182812
DR   Wikidata; Q54949420
RX   PubMed=20715179;
RX   PubMed=32619491;
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/518
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; PubMed=32619491).
CC   Omics: Transcriptome analysis by RNAseq.
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).
//
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).
//