ID   27b
AC   CVCL_8997
SY   iPS-27b; hiPS-27b; hiPS 27b; 27b-ALS; SOD1-27b; HVRDi008-B; HVRDi012-A
DR   EFO; EFO_0007109
DR   ENCODE; ENCBS466JVT
DR   GEO; GSM637788
DR   GEO; GSM670070
DR   hPSCreg; HVRDi008-B
DR   Wikidata; Q54583763
RX   PubMed=21293464;
RX   PubMed=21295703;
CC   From: Harvard University; Boston; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Gly86Ser (c.256G>A) (G85S); ClinVar=VCV000932081; Zygosity=Unspecified (PubMed=21293464).
CC   Omics: Transcriptomics; Microarray.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_8998 ! 27e
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 10-04-25; Version: 24
//
RX   PubMed=21293464; DOI=10.1038/nbt.1783; PMCID=PMC3229307;
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.S.,
RA   Rodolfa K.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; PMCID=PMC3063454;
RA   Bock C., Kiskinis E., Verstappen G., Gu H.-C., Boulting G.L., Smith Z.D.,
RA   Ziller M.J., Croft G.F., Amoroso M.W., Oakley D.H., Gnirke A.,
RA   Eggan K.C., 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).
//