ID   RCMGi011-A
AC   CVCL_C9H9
SY   P10L1
DR   BioSamples; SAMEA112696500
DR   hPSCreg; RCMGi011-A
DR   Wikidata; Q123033340
RX   PubMed=37643494;
CC   From: Research Centre for Medical Genetics; Moscow; Russia.
CC   Population: Caucasian; Russian.
CC   Sequence variation: Mutation; HGNC; 13733; CDH23; Simple; p.Arg269Trp (c.805C>T); ClinVar=VCV001687042; Zygosity=Heterozygous (PubMed=37643494).
CC   Sequence variation: Mutation; HGNC; 13733; CDH23; Simple; p.Val2331Ala (c.6992T>C); ClinVar=VCV001687043; Zygosity=Heterozygous (PubMed=37643494).
CC   Sequence variation: Mutation; HGNC; 4298; GLB1; Simple; p.Tyr270Asp (c.808T>G); ClinVar=VCV000284172; Zygosity=Heterozygous (PubMed=37643494).
CC   Sequence variation: Mutation; HGNC; 4298; GLB1; Unexplicit; Insertion of a pseudogene in intron 5; Zygosity=Heterozygous (PubMed=37643494).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C201586; Deafness, autosomal recessive 12
DI   NCIt; C84902; Mucopolysaccharidosis type IVB
DI   ORDO; Orphanet_90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB
DI   ORDO; Orphanet_309310; Mucopolysaccharidosis type 4B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C9HA ! RCMGi011-B
SX   Male
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37643494; DOI=10.1016/j.scr.2023.103183;
RA   Panchuk I.O., Grigorieva O.V., Kondrateva E.V., Kurshakova E.V.,
RA   Tabakov V., Bychkov I.O., Zakharova E., Orlova M.D., Voronina E.S.,
RA   Pozhitnova V.O., Lavrov A.V., Smirnikhina S.A., Kutsev S.I.;
RT   "Generation of two iPSC lines from patient with mucopolysaccharidosis
RT   IV B type and autosomal recessive non-syndromic hearing loss 12.";
RL   Stem Cell Res. 71:103183-103183(2023).
//