ID   LA3
AC   CVCL_T963
SY   HPS0100
DR   Wikidata; Q54901886
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Ile2020Thr (c.6059C>T); ClinVar=VCV000001941; Zygosity=Heterozygous (from autologous cell lines LA5 [Human iPSC]; LA11 [Human iPSC]).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_Y949 ! LA5 [Human iPSC]
OI   CVCL_Y950 ! LA8
OI   CVCL_Y951 ! LA11 [Human iPSC]
SX   Female
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 10-04-25; Version: 15
//