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Cellosaurus RCMGi009-A (CVCL_C9HC)

[Text version]
Cell line name RCMGi009-A
Synonyms P14L1
Accession CVCL_C9HC
Resource Identification Initiative To cite this cell line use: RCMGi009-A (RRID:CVCL_C9HC)
Comments From: Research Centre for Medical Genetics; Moscow; Russia.
Population: Caucasian.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 171; ACVR1; Simple; p.Arg206His (c.617G>A); ClinVar=VCV000018309; Zygosity=Heterozygous (PubMed=37307755).
Disease Fibrodysplasia ossificans progressiva (NCIt: C3040)
Fibrodysplasia ossificans progressiva (ORDO: Orphanet_337)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=37307755; DOI=10.1016/j.scr.2023.103133
Kondrateva E.V., Grigorieva O.V., Kurshakova E., Panchuk I.O., Pozhitnova V.O., Voronina E.S., Tabakov V.Y., Orlova M.D., Lavrov A.V., Smirnikhina S.A., Kutsev S.I.
Generation of induced pluripotent stem cell line (RCMGi009-A) from urine cells of patient with fibrodysplasia ossificans progressiva.
Stem Cell Res. 70:103133-103133(2023)

Cross-references
Cell line databases/resources hPSCreg; RCMGi009-A
Biological sample resources BioSamples; SAMEA112366029
Encyclopedic resources Wikidata; Q123033338
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2