Cellosaurus cell line ESi061-A (CVCL

Cellosaurus ESi061-A (CVCL_V157)

Cross-references
Cell line name	ESi061-A
Synonyms	[PD]FiPS022-V4F-15; [PD] FiPS022-V4F-15
Accession	CVCL_V157
Resource Identification Initiative	To cite this cell line use: ESi061-A (RRID:CVCL_V157)
Comments	Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection. From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=23075850).
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_A9P7 (FFF-022)
Sex of cell	Male
Age at sampling	47Y
Category	Induced pluripotent stem cell
Web pages	https://p-cmrc.cat/wp-content/uploads/2020/06/PDFiPS022-V4F-151.pdf https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/33/Caracteristicas%20-%20Deposito-Linea-PDFiPS022-V4F-15.pdf https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/33/Anexo%20-%20Anexo-deposito-PDFiPS022-V4F-15.pdf
Publications	PubMed=23075850; DOI=10.1038/nature11557; PMCID=PMC3504651 Liu G.-H., Qu J., Suzuki K., Nivet E., Li M., Montserrat N., Yi F., Xu X.-L., Ruiz S., Zhang W.-Q., Wagner U., Kim A., Ren B., Li Y., Goebl A., Kim J., Soligalla R.D., Dubova I., Thompson J., Yates J.R. 3rd, Esteban C.R., Sancho-Martinez I., Izpisua Belmonte J.C. Progressive degeneration of human neural stem cells caused by pathogenic LRRK2. Nature 491:603-607(2012)
Cell line databases/resources	hPSCreg; ESi061-A
Encyclopedic resources	Wikidata; Q54832823
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	18