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Cellosaurus STBCi004-B-1 (CVCL_A8X1)

[Text version]
Cell line name STBCi004-B-1
Synonyms SFC832-03-06 LRRK2WT/WT C47
Accession CVCL_A8X1
Resource Identification Initiative To cite this cell line use: STBCi004-B-1 (RRID:CVCL_A8X1)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 18618; LRRK2; Simple_corrected; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32359446).
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)
Hierarchy Parent: CVCL_RB35 (STBCi004-B)
Sex of cell Female
Age at sampling 77Y
Category Induced pluripotent stem cell
Publications

PubMed=32359446; DOI=10.1016/j.stemcr.2020.04.001
Lee H., Flynn R., Sharma I., Haberman E., Carling P.J., Nicholls F.J., Stegmann M., Vowles J., Haenseler W., Wade-Martins R., James W.S., Cowley S.A.
LRRK2 is recruited to phagosomes and co-recruits RAB8 and RAB10 in human pluripotent stem cell-derived macrophages.
Stem Cell Reports 14:940-955(2020)

Cross-references
Cell line collections (Providers) EBiSC; STBCi004-B-1
ECACC; 66541204 - Discontinued
Cell line databases/resources hPSCreg; STBCi004-B-1
Biological sample resources BioSamples; SAMEA5859478
Encyclopedic resources Wikidata; Q102114943
Entry history
Entry creation29-Oct-2020
Last entry update30-Jan-2024
Version number7