Cellosaurus cell line SPG11-32 (CVCL

Cellosaurus SPG11-32 (CVCL_VE53)

Cross-references
Cell line name	SPG11-32
Accession	CVCL_VE53
Resource Identification Initiative	To cite this cell line use: SPG11-32 (RRID:CVCL_VE53)
Comments	Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11226; SPG11; Simple; p.Trp89Ter (c.267G>A); ClinVar=VCV000041294; Zygosity=Heterozygous (PubMed=26971897). Mutation; HGNC; HGNC:11226; SPG11; Simple; c.1457-2A>G; ClinVar=VCV000041272; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=26971897).
Disease	Spastic paraplegia 11 (NCIt: C148317) Autosomal recessive spastic paraplegia type 11 (ORDO: Orphanet_2822)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_VE52 ! SPG11-31
Sex of cell	Female
Age at sampling	44Y
Category	Induced pluripotent stem cell
Publications	CLPUB00424 Mishra H.K. Modeling neurodevelopment and cortical dysfunction in SPG11-linked hereditary spastic paraplegia using human induced pluripotent stem cells. Thesis PhD (2016); Friedrich-Alexander-Universitat Erlangen-Nurnberg; Erlangen; Germany PubMed=26971897; DOI=10.1002/ana.24633; PMCID=PMC5084783 Mishra H.K., Prots I., Havlicek S., Kohl Z., Perez-Branguli F., Boerstler T., Anneser L., Minakaki G., Wend H., Hampl M., Leone M., Bruckner M., Klucken J., Reis A., Boyer L., Schuierer G., Behrens J., Lampert A., Engel F.B., Gage F.H., Winkler J., Winner B. GSK3beta-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model. Ann. Neurol. 79:826-840(2016)
Cell line databases/resources	SKIP; SKIP001203
Encyclopedic resources	Wikidata; Q54955553
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	11