ID   RCMGi011-B
AC   CVCL_C9HA
SY   P10L2
DR   BioSamples; SAMEA112751261
DR   hPSCreg; RCMGi011-B
DR   Wikidata; Q123033342
RX   PubMed=37643494;
CC   From: Research Centre for Medical Genetics; Moscow; Russia.
CC   Population: Caucasian; Russian.
CC   Sequence variation: Mutation; HGNC; HGNC:13733; CDH23; Simple; p.Arg269Trp (c.805C>T); ClinVar=VCV001687042; Zygosity=Heterozygous (PubMed=37643494).
CC   Sequence variation: Mutation; HGNC; HGNC:13733; CDH23; Simple; p.Val2331Ala (c.6992T>C); ClinVar=VCV001687043; Zygosity=Heterozygous (PubMed=37643494).
CC   Sequence variation: Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Tyr270Asp (c.808T>G); ClinVar=VCV000284172; Zygosity=Heterozygous (PubMed=37643494).
CC   Sequence variation: Mutation; HGNC; 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_C9H9 ! RCMGi011-A
SX   Male
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37643494; DOI=10.1016/j.scr.2023.103183;
RA   Panchuk, Irina O.
RA   Grigorieva, Olga V.
RA   Kondrateva, Ekaterina V.
RA   Kurshakova, Elizaveta V.
RA   Tabakov, Vyacheslav Y.
RA   Bychkov, Igor Olegovich
RA   Zakharova, Ekaterina Yurievna
RA   Orlova, Maria D.
RA   Voronina, Ekaterina Sergeevna
RA   Pozhitnova, Victoria O.
RA   Lavrov, Alexander V.
RA   Smirnikhina, Svetlana Anatolevna
RA   Kutsev, Sergey Ivanovich
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).
//