ID   RG-138
AC   CVCL_B565
SY   SI-138; hESC 138; RGIe050-A
DR   hPSCreg; RGIe050-A
DR   SKIP; SKIP002148
DR   Wikidata; Q54949886
RX   PubMed=15705304;
CC   From: Reproductive Genetics Institute; Chicago; USA.
CC   Sequence variation: Mutation; HGNC; 7765; NF1; Simple; p.Trp1831Ter (c.5492G>A) (p.Trp1810Ter, c.5429G>A); ClinVar=VCV000431656; Zygosity=Unspecified (PubMed=15705304).
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: 10-09-24; Version: 15
//
RX   PubMed=15705304; DOI=10.1016/S1472-6483(10)60810-3;
RA   Verlinsky Y., Strelchenko N., Kukharenko V., Rechitsky S.,
RA   Verlinsky O., Galat V., Kuliev A.;
RT   "Human embryonic stem cell lines with genetic disorders.";
RL   Reprod. BioMed. Online 10:105-110(2005).
//