Cellosaurus cell line STBCi004-B-1 (CVCL

Cellosaurus STBCi004-B-1 (CVCL_A8X1)

Cross-references
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; 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; PMCID=PMC7221108 Heyne Lee, Rowan Flynn, Ishta Sharma, Emma Haberman, Phillippa J. Carling, Francesca J. Nicholls, Monika Stegmann, Jane Vowles, Walther Haenseler, Richard Wade-Martins, William S. James, Sally Anne Cowley; 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)
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 creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	8