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Cellosaurus iPS-SPG4-splice (CVCL_IJ21)

[Text version]
Cell line name iPS-SPG4-splice
Accession CVCL_IJ21
Resource Identification Initiative To cite this cell line use: iPS-SPG4-splice (RRID:CVCL_IJ21)
Comments From: German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11233; SPAST; Simple; c.1687+2T>A; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=27789400).
Disease Spastic paraplegia 4 (NCIt: C129981)
Autosomal dominant spastic paraplegia type 4 (ORDO: Orphanet_100985)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 40Y
Category Induced pluripotent stem cell
Publications

PubMed=27789400; DOI=10.1016/j.scr.2016.09.022
Hauser S., Erzler M., Theurer Y., Schuster S., Schule R., Schols L.
Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.
Stem Cell Res. 17:485-488(2016)

Cross-references
Encyclopedic resources Wikidata; Q54898136
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12