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Cellosaurus UMGi014-C-17 (CVCL_D0QM)

[Text version]
Cell line name UMGi014-C-17
Synonyms isWT1-MRAS-G23V.G2; UMGi014-C-17 clone G2
Accession CVCL_D0QM
Resource Identification Initiative To cite this cell line use: UMGi014-C-17 (RRID:CVCL_D0QM)
Comments From: University Medical Center Goettingen; Goettingen; Germany.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7227; MRAS; Simple_edited; p.Gly23Val (c.68G>T); ClinVar=VCV000635781; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37141804).
Disease Noonan syndrome (NCIt: C34854)
Noonan syndrome (ORDO: Orphanet_648)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A4ZE (UMGi014-C)
Sex of cell Male
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=37141804; DOI=10.1016/j.scr.2023.103108
Busley A.V., Cyganek L.
Generation of a genetically-modified induced pluripotent stem cell line harboring a Noonan syndrome-associated gene variant MRAS p.G23V.
Stem Cell Res. 69:103108-103108(2023)

Cross-references
Cell line databases/resources hPSCreg; UMGi014-C-17
Encyclopedic resources Wikidata; Q123033740
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2