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, Gabriella L.
RA   Kiskinis, Evangelos
RA   Croft, Gist Fralley
RA   Amoroso, Mackenzie Weygandt
RA   Oakley, Derek H.
RA   Wainger, Brian Jason
RA   Williams, Damian J.
RA   Kahler, David J.
RA   Yamaki, Mariko
RA   Davidow, Lance S.
RA   Rodolfa, Kit T.
RA   Dimos, John T.
RA   Mikkilineni, Shravani
RA   MacDermott, Amy B.
RA   Woolf, Clifford J.
RA   Henderson, Christopher E.
RA   Wichterle, Hynek
RA   Eggan, Kevin Carl
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, Christoph
RA   Kiskinis, Evangelos
RA   Verstappen, Griet
RA   Gu, Hong-Cang
RA   Boulting, Gabriella L.
RA   Smith, Zachary D.
RA   Ziller, Michael Johannes
RA   Croft, Gist Fralley
RA   Amoroso, Mackenzie Weygandt
RA   Oakley, Derek H.
RA   Gnirke, Andreas
RA   Eggan, Kevin Carl
RA   Meissner, Alexander
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).
//