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Cellosaurus iSPG3A-8 (CVCL_RM27)

[Text version]
Cell line name iSPG3A-8
Accession CVCL_RM27
Resource Identification Initiative To cite this cell line use: iSPG3A-8 (RRID:CVCL_RM27)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11231; ATL1; Simple; p.Pro342Ser (c.1024C>T); Zygosity=Heterozygous (PubMed=24908668).
Disease Spastic paraplegia 3A (NCIt: C142893)
Autosomal dominant spastic paraplegia type 3 (ORDO: Orphanet_100984)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RM26 ! iSPG3A-6
Sex of cell Female
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=24908668; DOI=10.1093/hmg/ddu280; PMCID=PMC4189900
Peng-Peng Zhu, Kyle R. Denton, Tyler Mark Pierson, Xue-Jun Li, Craig Blackstone;
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.
Hum. Mol. Genet. 23:5638-5648(2014)

Cross-references
Cell line databases/resources SKIP; SKIP001353
Encyclopedic resources Wikidata; Q54898324
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10