ID   WIBR3_LRRK2_G2019S_315_Homo
AC   CVCL_C7VK
DR   Wikidata; Q123033873
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple_edited; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Homozygous; Note=By CRISPR/Cas9 (Direct_author_submission).
CC   Miscellaneous: Cell line not distributed because it failed quality controls (Direct_author_submission).
CC   Miscellaneous: Cell line information from personal communication of Booth E.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9767 ! WIBR3
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 29-06-23; Last updated: 02-05-24; Version: 3
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