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Cellosaurus SDUBMSi001-A (CVCL_YT38)

[Text version]

Cell line name SDUBMSi001-A
Accession CVCL_YT38
Resource Identification Initiative To cite this cell line use: SDUBMSi001-A (RRID:CVCL_YT38)
Comments From: School of Basic Medical Sciences, Shandong University; Jinan; China.
Population: Han Chinese.
Derived from sampling site: Peripheral blood.
Sequence variations Heterozygous for KIF1A p.Thr258Met (c.773C>T) (PubMed=32045731).
Disease Spastic paraplegia 30 (NCIt: C170435)
Autosomal spastic paraplegia type 30 (ORDO: Orphanet_101010)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
Publications

PubMed=32045731; DOI=10.1016/j.scr.2020.101727
Wang X.-J., Ma Y.-Y., Duan R.-N., Liu X.-L., Zhang H.-Y., Ma J., Liu Y., Sun W.-J., Liu Q.-J.
Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying KIF1A c.773C>T missense mutation.
Stem Cell Res. 43:101727-101727(2020)

Cross-references
Cell line databases/resources hPSCreg; SDUBMSi001-A
Biological sample resources BioSamples; SAMEA6592711
Entry history
Entry creation12-Mar-2020
Last entry updated12-Mar-2020
Version number1