ID   SZ-NF6
AC   CVCL_YY00
SY   NF#6
DR   Wikidata; Q98133031
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; c.4332+1G>C (c.4269+1G>C); ClinVar=VCV001457886; Zygosity=Unspecified; Note=Splice donor mutation (Direct_author_submission).
CC   Miscellaneous: Cell line information 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: 12-03-20; Last updated: 19-12-24; Version: 8
//