ID   27e
AC   CVCL_8998
SY   iPS-27e; hiPS 27e; hiPS-27e; 27e-ALS; SOD1-27e; HVRDi008-A
DR   EFO; EFO_0007110
DR   BioSamples; SAMEA13190959
DR   ENCODE; ENCBS626IJF
DR   GEO; GSM637789
DR   GEO; GSM670064
DR   hPSCreg; HVRDi008-A
DR   SKIP; SKIP004432
DR   Wikidata; Q54583764
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_8997 ! 27b
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 10-04-25; Version: 25
//
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).
//
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).
//