ID   SZ-Gaucher4
AC   CVCL_YL48
SY   SZ-Gaucher4 PGD; Gaucher#4
DR   NIHhESC; NIHhESC-20-0457
DR   Wikidata; Q98133012
WW   https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0457.
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu29Alafs*18 (c.84dupG) (c.84_85insG) (84GG); ClinVar=VCV000004311; Zygosity=Heterozygous (NIHhESC=NIHhESC-20-0457).
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg535His (c.1604G>A) (R496H); ClinVar=VCV000004311; Zygosity=Heterozygous (NIHhESC=NIHhESC-20-0457).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C61268; Gaucher disease
DI   ORDO; Orphanet_355; Gaucher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 10
//