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Cellosaurus IAIi010-A (CVCL_C6Q0)

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Cell line name IAIi010-A
Synonyms Kif5A 1847 C3; KIF5A_C3
Accession CVCL_C6Q0
Resource Identification Initiative To cite this cell line use: IAIi010-A (RRID:CVCL_C6Q0)
Comments From: Istituto Auxologico Italiano (IAI)-IRCCS; Milan; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6323; KIF5A; Simple; p.Arg17Gln (c.50G>A); Zygosity=Heterozygous (PubMed=36565680).
Disease Spastic paraplegia 10 (NCIt: C192058)
Autosomal dominant spastic paraplegia type 10 (ORDO: Orphanet_100991)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 79Y
Category Induced pluripotent stem cell
Publications

PubMed=36565680; DOI=10.1016/j.scr.2022.103008
Serena Santangelo, Patrizia Bossolasco, Stefania Magri, Claudia Colombrita, Sabrina Invernizzi, Cinzia Gellera, Lorenzo Nanetti, Daniela Di Bella, Vincenzo Silani, Franco Taroni, Antonia Ratti;
Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene.
Stem Cell Res. 66:103008-103008(2023)

Cross-references
Cell line databases/resources hPSCreg; IAIi010-A
Biological sample resources BioSamples; SAMEA111554064
Encyclopedic resources Wikidata; Q117704512
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3