ID   WIBR3_GBA1_IVS2_D6B
AC   CVCL_C7VE
DR   Wikidata; Q123033872
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple_edited; p.Gly39Aspfs*3 (c.115+1G>A) (IVS2+1G>A) (IVS2DS,G-A,+1); ClinVar=VCV000093445; Zygosity=Homozygous; Note=By CRISPR/Cas9. Splice donor mutation that causes skipping of exon 2 (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; C26845; Parkinson's disease
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: 10-09-24; Version: 5
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