ID   WIBR3_PLA2G6_D331Y_A4_C2
AC   CVCL_E2W4
CC   Sequence variation: Mutation; HGNC; HGNC:9039; PLA2G6; Simple_edited; p.Asp331Tyr (c.991G>T); ClinVar=VCV000030371; Zygosity=Homozygous; Note=By CRISPR/Cas9 (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; C201519; Parkinson disease 14, autosomal recessive
DI   ORDO; Orphanet_199351; Adult-onset dystonia-parkinsonism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9767 ! WIBR3
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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