ID   WIBR3_FBXO7_R498X_G7-1
AC   CVCL_C7VC
DR   Wikidata; Q123033871
CC   Sequence variation: Mutation; HGNC; 13586; FBXO7; Simple_edited; p.Arg498Ter (c.1492C>T); ClinVar=VCV000004809; 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, Ezgi O.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C198607; Parkinson disease 15, autosomal recessive early-onset
DI   ORDO; Orphanet_2828; Young-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: 10-09-24; Version: 5
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