ID   27e
AC   CVCL_8998
SY   iPS-27e; hiPS 27e; hiPS-27e; 27e-ALS; SOD1-27e; HVRDi008-A
DR   EFO; EFO_0007110
DR   BioSamples; SAMEA5176971
DR   eagle-i;
DR   GEO; GSM637789
DR   GEO; GSM670064
DR   hPSCreg; HVRDi008-A
DR   ISCR; 1632
DR   SKIP; SKIP004432
DR   Wikidata; Q54583764
RX   PubMed=21293464;
RX   PubMed=21295703;
CC   From: Harvard University; Boston; USA.
CC   Sequence variation: Mutation; HGNC; 11179; SOD1; Simple; p.Gly86Ser (c.256G>A) (G85S); ClinVar=VCV000932081; Zygosity=Unspecified (PubMed=21293464).
CC   Omics: Transcriptome analysis.
CC   Derived from sampling site: Skin.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_8997 ! 27b
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 20-05-21; Version: 17
RX   PubMed=21293464; DOI=10.1038/nbt.1783;
RA   Boulting G.L., Kiskinis E., Croft G.F., Amoroso M.W., Oakley D.H.,
RA   Wainger B.J., Williams D.J., Kahler D.J., Yamaki M., Davidow L.,
RA   Rodolfa C.T., Dimos J.T., Mikkilineni S., MacDermott A.B., Woolf C.J.,
RA   Henderson C.E., Wichterle H., Eggan K.C.;
RT   "A functionally characterized test set of human induced pluripotent
RT   stem cells.";
RL   Nat. Biotechnol. 29:279-286(2011).
RX   PubMed=21295703; DOI=10.1016/j.cell.2010.12.032;
RA   Bock C., Kiskinis E., Verstappen G., Gu H., Boulting G.L., Smith Z.D.,
RA   Ziller M., Croft G.F., Amoroso M.W., Oakley D.H., Gnirke A., Eggan K.C.,
RA   Meissner A.;
RT   "Reference maps of human ES and iPS cell variation enable
RT   high-throughput characterization of pluripotent cell lines.";
RL   Cell 144:439-452(2011).