ID   UCSD003i-16-2
AC   CVCL_EM46
SY   iPSCORE_16_2; NextGen_16_2
DR   SKIP; SKIP003389
DR   WiCell; ucsd003i-16-2
DR   Wikidata; Q54989715
RX   PubMed=28410642;
CC   Part of: iPSC Collection for Omic Research (iPSCORE).
CC   Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
CC   From: Frazer, Kelly A.; University of California, San Diego; San Diego; USA.
CC   Population: Indian.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84735; Glycogen storage disease type IIb
DI   ORDO; Orphanet_34587; Glycogen storage disease due to LAMP-2 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 10-09-24; Version: 13
//
RX   PubMed=28410642; DOI=10.1016/j.stemcr.2017.03.012; PMCID=PMC5390244;
RA   Panopoulos A.D., D'Antonio M., Benaglio P., Williams R., Hashem S.I.,
RA   Schuldt B.M., DeBoever C., Arias A.D., Garcia M., Nelson B.C.,
RA   Harismendy O., Jakubosky D.A., Donovan M.K.R., Greenwald W.W.,
RA   Farnam K., Cook M., Borja V., Miller C.A., Grinstein J.D., Drees F.,
RA   Okubo J., Diffenderfer K.E., Hishida Y., Modesto V., Dargitz C.T.,
RA   Feiring R., Zhao C., Aguirre A., McGarry T.J., Matsui H., Li H.,
RA   Reyna J., Rao F.-W., O'Connor D.T., Yeo G.W., Evans S.M., Chi N.C.,
RA   Jepsen K., Nariai N., Muller F.-J., Goldstein L.S.B.,
RA   Izpisua Belmonte J.C., Adler E.D., Loring J.F., Berggren W.T.,
RA   D'Antonio-Chronowska A., Smith E.N., Frazer K.A.;
RT   "iPSCORE: a resource of 222 iPSC lines enabling functional
RT   characterization of genetic variation across a variety of cell
RT   types.";
RL   Stem Cell Reports 8:1086-1100(2017).
//