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Cellosaurus RG-139 (CVCL_B566)

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Cell line name RG-139
Synonyms SI-139; hESC 139; RGIe051-A
Accession CVCL_B566
Resource Identification Initiative To cite this cell line use: RG-139 (RRID:CVCL_B566)
Comments From: Reproductive Genetics Institute; Chicago; USA.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:7765; NF1; Simple; p.Trp1831Ter (c.5492G>A) (p.Trp1810Ter, c.5429G>A); ClinVar=VCV000431656; Zygosity=Unspecified (PubMed=15705304).
Disease Neurofibromatosis type 1 (NCIt: C3273)
Neurofibromatosis type 1 (ORDO: Orphanet_636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=15705304; DOI=10.1016/S1472-6483(10)60810-3
Yury Verlinsky, Nikolai Strelchenko, Valeri Kukharenko, Svetlana Rechitsky, Oleg Verlinsky, Vasiliy Galat, Anver Kuliev;
Human embryonic stem cell lines with genetic disorders.
Reprod. BioMed. Online 10:105-110(2005)

Cross-references
Cell line databases/resources hPSCreg; RGIe051-A
SKIP; SKIP002149
Encyclopedic resources Wikidata; Q54949888
Entry history
Entry creation06-Jun-2012
Last entry update19-Dec-2024
Version number16