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Cellosaurus 29e (CVCL_9002)

[Text version]
Cell line name 29e
Synonyms 29e-ALS; iPS29e; 29e SOD1 L144F; HVRDi009-A
Accession CVCL_9002
Resource Identification Initiative To cite this cell line use: 29e (RRID:CVCL_9002)
Comments From: Harvard University; Boston; USA.
Omics: Deep exome analysis.
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.Leu145Phe (c.435G>C) (L144F); ClinVar=VCV000586637; 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_8999 ! 29a
CVCL_9000 ! 29b
CVCL_B522 ! 29c
CVCL_9001 ! 29d
Sex of cell Female
Age at sampling 82Y
Category Induced pluripotent stem cell

PubMed=21293464; DOI=10.1038/nbt.1783
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=21368825; DOI=10.1038/nature09805
Gore A., Li Z., Fung H.-L., Young J.E., Agarwal S., Antosiewicz-Bourget J., Canto I., Giorgetti A., Israel M.A., Kiskinis E., Lee J.-H., Loh Y.-H., Manos P.D., Montserrat N., Panopoulos A.D., Ruiz S., Wilbert M.L., Yu J.-Y., Kirkness E.F., Izpisua Belmonte J.C., Rossi D.J., Thomson J.A., Eggan K.C., Daley G.Q., Goldstein L.S.B., Zhang K.
Somatic coding mutations in human induced pluripotent stem cells.
Nature 471:63-67(2011)

Cell line databases/resources hPSCreg; HVRDi009-A
ISCR; 1634
SKIP; SKIP004433
Biological sample resources BioSamples; SAMEA5176972
Encyclopedic resources Wikidata; Q54584277
Entry history
Entry creation06-Jun-2012
Last entry update29-Jun-2023
Version number20