Cellosaurus cell line PD-BP44-iPSC (CVCL

Cross-references
Cell line name	PD-BP44-iPSC
Accession	CVCL_JL88
Resource Identification Initiative	To cite this cell line use: PD-BP44-iPSC (RRID:CVCL_JL88)
Comments	From: National Neuroscience Institute; Singapore; Singapore. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Ser1647Thr (c.4939T>A); ClinVar=VCV000039201; Zygosity=Heterozygous (PubMed=28395805).
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	64Y
Category	Induced pluripotent stem cell
Publications	PubMed=28395805; DOI=10.1016/j.scr.2016.12.010 Ma D.-R., Ng S.H., Zeng L., Zhao Y., Tan E.K. Generation of a human induced pluripotent stem cell (iPSC) line carrying the Parkinson's disease linked LRRK2 variant S1647T. Stem Cell Res. 18:54-56(2017)
Encyclopedic resources	Wikidata; Q54946771
Entry history
Entry creation	15-May-2017
Last entry update	19-Dec-2024
Version number	11