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Cellosaurus 27e (CVCL_8998)

[Text version]
Cell line name 27e
Synonyms iPS-27e; hiPS 27e; hiPS-27e; 27e-ALS; SOD1-27e; HVRDi008-A
Accession CVCL_8998
Resource Identification Initiative To cite this cell line use: 27e (RRID:CVCL_8998)
Comments From: Harvard University; Boston; USA.
Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11179; SOD1; Simple; p.Gly86Ser (c.256G>A) (G85S); ClinVar=VCV000932081; Zygosity=Unspecified (PubMed=21293464).
Disease Amyotrophic lateral sclerosis 1 (NCIt: C168749)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_8997 ! 27b
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=21293464; DOI=10.1038/nbt.1783; PMCID=PMC3229307
Boulting G.L., Kiskinis E., Croft G.F., Amoroso M.W., Oakley D.H., Wainger B.J., Williams D.J., Kahler D.J., Yamaki M., Davidow L.S., Rodolfa C.T., Dimos J.T., Mikkilineni S., MacDermott A.B., Woolf C.J., Henderson C.E., Wichterle H., Eggan K.C.
A functionally characterized test set of human induced pluripotent stem cells.
Nat. Biotechnol. 29:279-286(2011)

PubMed=21295703; DOI=10.1016/j.cell.2010.12.032; PMCID=PMC3063454
Bock C., Kiskinis E., Verstappen G., Gu H.-C., Boulting G.L., Smith Z.D., Ziller M.J., Croft G.F., Amoroso M.W., Oakley D.H., Gnirke A., Eggan K.C., Meissner A.
Reference maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines.
Cell 144:439-452(2011)

Cross-references
Cell line databases/resources hPSCreg; HVRDi008-A
SKIP; SKIP004432
Biological sample resources BioSamples; SAMEA13190959
ENCODE; ENCBS626IJF
Encyclopedic resources Wikidata; Q54583764
Experimental variables resources EFO; EFO_0007110
Gene expression databases GEO; GSM637789
GEO; GSM670064
Entry history
Entry creation06-Jun-2012
Last entry update10-Sep-2024
Version number23