ID   RG-315
AC   CVCL_B721
SY   SI-315
DR   Wikidata; Q54950107
WW   Info; NIHhESC; -; https://grants.nih.gov/stem_cells/registry/not_approved.htm
CC   From: Reproductive Genetics Institute; Chicago; USA.
CC   Registration: NIH Human Embryonic Stem Cell Registry; not approved.
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; p.Arg1968Ter (c.5902C>T) (p.Arg1947Ter, c.5839C>T); ClinVar=VCV000000343; Zygosity=Heterozygous (ISCR=635).
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   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 10-04-25; Version: 20
//