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Cellosaurus FJMUi001-A (CVCL_UL68)

[Text version]

Cell line name FJMUi001-A
Synonyms hiPS-SPG76-001; hiPS-SPG76
Accession CVCL_UL68
Resource Identification Initiative To cite this cell line use: FJMUi001-A (RRID:CVCL_UL68)
Comments From: Fujian Medical University; Fuzhou; China.
Sequence variations Heterozygous for CAPN1 p.Pro498Leu (c.1493C>T) and p.Arg618Trp (c.1852C>T) (PubMed=30611022).
Disease Spastic paraplegia 76 (NCIt: C157150)
Autosomal recessive spastic paraplegia type 76 (ORDO: Orphanet_488594)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 42Y
Category Induced pluripotent stem cell
Publications

PubMed=30611022; DOI=10.1016/j.scr.2018.11.015
Lu Y.-Q., Dong E.-L., Yang W.-Q., Lai L.-L., Lin X.-H., Ma L.-X., Chen W.-J., Wang N., Lin X.
Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).
Stem Cell Res. 34:101354-101354(2019)

Cross-references
Cell line databases/resources hPSCreg; FJMUi001-A
Biological sample resources BioSamples; SAMEA4966481
Other Wikidata; Q93554086
Entry history
Entry creation25-Feb-2019
Last entry update02-Jul-2020
Version number3