Cellosaurus cell line PDSHM147V#18 (CVCL

Cross-references
Cell line name	PDSHM147V#18
Synonyms	M147V clone #18
Accession	CVCL_RL29
Resource Identification Initiative	To cite this cell line use: PDSHM147V#18 (RRID:CVCL_RL29)
Comments	Population: Japanese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:8818; SLC26A4; Simple; p.Met147Val (c.439A>G); ClinVar=VCV000691508; Zygosity=Heterozygous (PubMed=28052261). Mutation; HGNC; HGNC:8818; SLC26A4; Simple; p.His723Arg (c.2168A>G); ClinVar=VCV000004825; Zygosity=Heterozygous (PubMed=28052261).
Disease	Pendred syndrome (NCIt: C121745) Pendred syndrome (ORDO: Orphanet_705)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_RL27 ! PDSHM147V#3 CVCL_RL28 ! PDSHM147V#13
Sex of cell	Female
Age at sampling	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=28052261; DOI=10.1016/j.celrep.2016.12.020 Hosoya M., Fujioka M., Sone T., Okamoto S., Akamatsu W., Ukai H., Ueda H.R., Ogawa K., Matsunaga T., Okano H. Cochlear cell modeling using disease-specific iPSCs unveils a degenerative phenotype and suggests treatments for congenital progressive hearing loss. Cell Rep. 18:68-81(2017)
Cell line databases/resources	SKIP; SKIP001749
Encyclopedic resources	Wikidata; Q54946862
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10