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Cellosaurus RG-201 (CVCL_B622)

[Text version]
Cell line name RG-201
Synonyms SI-201; RGIe105-A
Accession CVCL_B622
Resource Identification Initiative To cite this cell line use: RG-201 (RRID:CVCL_B622)
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:61; ABCD1; Simple; p.Gln472Argfs*83 (c.1415_1416delAG) (1801delAG); ClinVar=VCV000011303; Zygosity=Hemizygous (PubMed=15705304).
Disease Adrenoleukodystrophy (NCIt: C61252)
X-linked cerebral adrenoleukodystrophy (ORDO: Orphanet_139396)
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
Verlinsky Y., Strelchenko N., Kukharenko V., Rechitsky S., Verlinsky O., Galat V., Kuliev A.
Human embryonic stem cell lines with genetic disorders.
Reprod. BioMed. Online 10:105-110(2005)

Cross-references
Cell line databases/resources hPSCreg; RGIe105-A
SKIP; SKIP002204
Encyclopedic resources Wikidata; Q54949975
Entry history
Entry creation06-Jun-2012
Last entry update19-Dec-2024
Version number15