ID KOLF2.1J GBA1 D448V REV/WT AC CVCL_E4VV SY JIPSC001216 WW https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC001216 CC From: The Jackson Laboratory; Bar Harbor; USA. CC Population: Caucasian; British. CC Characteristics: Control cell line which is a CRISPR/Cas9 engineered revertant of the heterozygously edited GBA1 p.Asp448Val (c.1343A>T) cell line. CC Sequence variation: Mutation; HGNC; HGNC:18037; ARID2; Simple_corrected; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (from parent cell line). CC Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line). CC Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line). CC Derived from site: In situ; Skin; UBERON=UBERON_0002097. CC Cell type: Fibroblast of skin; CL=CL_0002620. DI NCIt; C61268; Gaucher disease DI ORDO; Orphanet_355; Gaucher disease OX NCBI_TaxID=9606; ! Homo sapiens (Human) HI CVCL_E4VX ! KOLF2.1J GBA1 D448V SNV/WT SX Male AG 55-59Y CA Induced pluripotent stem cell DT Created: 19-12-24; Last updated: 19-12-24; Version: 1 //