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Cellosaurus FJMUi001-A (CVCL_UL68)

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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.
Population: Chinese; Han.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1476; CAPN1; Simple; p.Pro498Leu (c.1493C>T); Zygosity=Heterozygous (PubMed=30611022).
  • Mutation; HGNC; HGNC:1476; CAPN1; Simple; p.Arg618Trp (c.1852C>T); Zygosity=Heterozygous (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
Ying-Qian Lu, En-Lin Dong, Wei-Qi Yang, Lu-Lu Lai, Xiao-Hong Lin, Li-Xiang Ma, Wan-Jin Chen, Ning Wang, Xiang Lin;
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
SKIP; SKIP005536
Biological sample resources BioSamples; SAMEA4966481
Encyclopedic resources Wikidata; Q93554086
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10