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Cellosaurus LCSBi013-A (CVCL_D0HL)

[Text version]
Cell line name LCSBi013-A
Synonyms GL2; iPSC F0245 CL1_1
Accession CVCL_D0HL
Resource Identification Initiative To cite this cell line use: LCSBi013-A (RRID:CVCL_D0HL)
Comments From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=37832355).
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=37832355).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 67Y
Category Induced pluripotent stem cell
Publications

PubMed=37832355; DOI=10.1016/j.scr.2023.103212
Oleksy C., Massart F., Goldwurm S., Arado A., Arena G., Boussaad I., Kruger R.
Generation and characterization of induced pluripotent stem cells from a Parkinson's disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations.
Stem Cell Res. 72:103212-103212(2023)

Cross-references
Cell line databases/resources hPSCreg; LCSBi013-A
Biological sample resources BioSamples; SAMEA113634167
Encyclopedic resources Wikidata; Q123032942
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2