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Cellosaurus RCMGi011-B (CVCL_C9HA)

[Text version]
Cell line name RCMGi011-B
Synonyms P10L2
Accession CVCL_C9HA
Resource Identification Initiative To cite this cell line use: RCMGi011-B (RRID:CVCL_C9HA)
Comments From: Research Centre for Medical Genetics; Moscow; Russia.
Population: Caucasian; Russian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 13733; CDH23; Simple; p.Arg269Trp (c.805C>T); ClinVar=VCV001687042; Zygosity=Heterozygous (PubMed=37643494).
  • Mutation; HGNC; 13733; CDH23; Simple; p.Val2331Ala (c.6992T>C); ClinVar=VCV001687043; Zygosity=Heterozygous (PubMed=37643494).
  • Mutation; HGNC; 4298; GLB1; Simple; p.Tyr270Asp (c.808T>G); ClinVar=VCV000284172; Zygosity=Heterozygous (PubMed=37643494).
  • Mutation; HGNC; 4298; GLB1; Unexplicit; Insertion of a pseudogene in intron 5; Zygosity=Heterozygous (PubMed=37643494).
Disease Deafness, autosomal recessive 12 (NCIt: C201586)
Mucopolysaccharidosis type IVB (NCIt: C84902)
Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Mucopolysaccharidosis type 4B (ORDO: Orphanet_309310)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C9H9 ! RCMGi011-A
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=37643494; DOI=10.1016/j.scr.2023.103183
Panchuk I.O., Grigorieva O.V., Kondrateva E.V., Kurshakova E.V., Tabakov V., Bychkov I.O., Zakharova E., Orlova M.D., Voronina E.S., Pozhitnova V.O., Lavrov A.V., Smirnikhina S.A., Kutsev S.I.
Generation of two iPSC lines from patient with mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12.
Stem Cell Res. 71:103183-103183(2023)

Cross-references
Cell line databases/resources hPSCreg; RCMGi011-B
Biological sample resources BioSamples; SAMEA112751261
Encyclopedic resources Wikidata; Q123033342
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2