Cellosaurus cell line RCMGi011-B (CVCL

Cellosaurus RCMGi011-B (CVCL_C9HA)

Cross-references
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; HGNC:13733; CDH23; Simple; p.Arg269Trp (c.805C>T); ClinVar=VCV001687042; Zygosity=Heterozygous (PubMed=37643494). Mutation; HGNC; HGNC:13733; CDH23; Simple; p.Val2331Ala (c.6992T>C); ClinVar=VCV001687043; Zygosity=Heterozygous (PubMed=37643494). Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Tyr270Asp (c.808T>G); ClinVar=VCV000284172; Zygosity=Heterozygous (PubMed=37643494). Mutation; HGNC; 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.Y., Bychkov I.O., Zakharova E.Y., 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)
Cell line databases/resources	hPSCreg; RCMGi011-B
Biological sample resources	BioSamples; SAMEA112751261
Encyclopedic resources	Wikidata; Q123033342
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3