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Cellosaurus RCMGi012-A (CVCL_C9HD)

[Text version]
Cell line name RCMGi012-A
Synonyms P11L3
Accession CVCL_C9HD
Resource Identification Initiative To cite this cell line use: RCMGi012-A (RRID:CVCL_C9HD)
Comments From: Research Centre for Medical Genetics; Moscow; Russia.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 714; ARSB; Simple; p.Trp322Ter (c.966G>A); ClinVar=VCV000559831; Zygosity=Heterozygous (PubMed=38006675).
Disease Maroteaux-Lamy syndrome (NCIt: C61264)
Mucopolysaccharidosis type 6 (ORDO: Orphanet_583)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=38006675; DOI=10.1016/j.scr.2023.103259
Kondrateva E.V., Grigorieva O.V., Panchuk I.O., Bychkov I.O., Zakharova E.Y., Tabakov V.Y., Pozhitnova V.O., Voronina E.S., Shchagina O.A., Lavrov A.V., Smirnikhina S.A., Kutsev S.I.
Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI.
Stem Cell Res. 73:103259-103259(2023)

Cross-references
Cell line databases/resources hPSCreg; RCMGi012-A
Biological sample resources BioSamples; SAMEA113401540
Encyclopedic resources Wikidata; Q123033343
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3