ID   SZ-NF2
AC   CVCL_YL58
SY   SZ-NF2 PGD; NF#2
DR   NIHhESC; NIHhESC-20-0464
DR   Wikidata; Q98133025
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0464.
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; c.4332+1G>C (c.4269+1G>C); ClinVar=VCV00145788; Zygosity=Unspecified; Note=Splice donor mutation (Direct_author_submission).
CC   Miscellaneous: Sequence variation from personal communication of Eiges, Rachel.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
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: 9
//