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Cellosaurus LCPHi001-A (CVCL_A0SU)

[Text version]
Cell line name LCPHi001-A
Accession CVCL_A0SU
Resource Identification Initiative To cite this cell line use: LCPHi001-A (RRID:CVCL_A0SU)
Comments From: The Institute for Tissue Engineering and Regenerative Medicine, Liaocheng People's Hospital; Liaocheng; China.
Population: Chinese; Han.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=34464855).
  • Mutation; HGNC; 4177; GBA1; Simple; p.Ala495Pro (c.1483G>C) (A456P); ClinVar=VCV000093450; Zygosity=Heterozygous (PubMed=34464855).
  • Mutation; HGNC; 4177; GBA1; Simple; p.Val499Val (c.1497G>C) (V460V); ClinVar=VCV000093451; Zygosity=Heterozygous (PubMed=34464855).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=34464855; DOI=10.1016/j.scr.2021.102514
Lu X.-J., Song N., Wang W., Liu Y.-M., Song H., Xu L., Wang Y., Wei C.-F., Chen J.-L., Yang X.-F., Han F.-B.
Generation of integration-free human iPSC line LCPHi001-A from a Parkinson's disease patient carrying the RecNciI mutation in GBA gene.
Stem Cell Res. 56:102514-102514(2021)

Cross-references
Cell line databases/resources hPSCreg; LCPHi001-A
Biological sample resources BioSamples; SAMEA9406020
Encyclopedic resources Wikidata; Q108820766
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5