ID   CIBi014-A
AC   CVCL_C6TK
SY   LRRK2_c.5136A>T
DR   hPSCreg; CIBi014-A
DR   Wikidata; Q117704253
RX   PubMed=36528012;
CC   From: Cell Inspire Biotechnology; Shenzhen; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Leu1712Phe (c.5136A>T); Zygosity=Heterozygous (PubMed=36528012).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36528012; DOI=10.1016/j.scr.2022.102995;
RA   Li L.-F., Si X.-L., Yang J.-Y., Lei M., Liu H.-F., Ruan J., Fu H.-T.,
RA   Li W.-X., Yang H., Lei X.-G., Sang H.-F.;
RT   "Generation of a human iPSC line (CIBi014-A) from a patient with
RT   Parkinson's disease carrying a novel heterozygotic PARK8 (LRRK2)
RT   mutation.";
RL   Stem Cell Res. 66:102995-102995(2023).
//