ID   SP13.4
AC   CVCL_V203
AS   CVCL_RI64
SY   SP13#4; ESi006-A
DR   BioSamples; SAMEA3303225
DR   EBiSC; ESi006-A
DR   ECACC; 66540068
DR   hPSCreg; ESi006-A
DR   SKIP; SKIP000958
DR   SKIP; SKIP002423
DR   Wikidata; Q54955440
RX   PubMed=22407749;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/pdf_SP_13_4.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexos_SP13_4.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Institut de Bioenginyeria de Catalunya (IBEC); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=22407749).
CC   Discontinued: ECACC; 66540068; true.
CC   Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003.
CC   Cell type: Keratinocyte; CL=CL_0000312.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RI63 ! SP13.2
SX   Female
AG   68Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 10-04-25; Version: 21
//
RX   PubMed=22407749; DOI=10.1002/emmm.201200215; PMCID=PMC3403296;
RA   Sanchez-Danes, Adriana
RA   Richaud-Patin, Yvonne
RA   Carballo-Carbajal, Iria
RA   Jimenez-Delgado, Senda
RA   Caig, Carles
RA   Mora, Sergio
RA   Di Guglielmo, Claudia
RA   Ezquerra, Mario
RA   Patel, Bindiben
RA   Giralt, Albert
RA   Canals, Josep Maria
RA   Memo, Maurizio
RA   Alberch, Jordi
RA   Lopez-Barneo, Jose
RA   Vila, Miquel
RA   Cuervo, Ana Maria
RA   Tolosa, Eduard
RA   Consiglio, Antonella
RA   Raya, Angel
RT   "Disease-specific phenotypes in dopamine neurons from human iPS-based
RT   models of genetic and sporadic Parkinson's disease.";
RL   EMBO Mol. Med. 4:380-395(2012).
//