Cellosaurus cell line iPS-SPG4-splice (CVCL

Cross-references
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; ClinVar=VCV003720314; 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 Stefan Hauser, Melanie Erzler, Yvonne Theurer, Stefanie Schuster, Rebecca Schule, Ludger Schols; Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient. Stem Cell Res. 17:485-488(2016)
Encyclopedic resources	Wikidata; Q54898136
Entry history
Entry creation	01-Dec-2016
Last entry update	27-Nov-2025
Version number	13