Cellosaurus cell line PDSHM147V#3 (CVCL

Cross-references
Cell line name	PDSHM147V#3
Synonyms	M147V clone #3
Accession	CVCL_RL27
Resource Identification Initiative	To cite this cell line use: PDSHM147V#3 (RRID:CVCL_RL27)
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_RL28 ! PDSHM147V#13 CVCL_RL29 ! PDSHM147V#18
Sex of cell	Female
Age at sampling	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=28052261; DOI=10.1016/j.celrep.2016.12.020 Makoto Hosoya, Masato Fujioka, Takefumi Sone, Satoshi Okamoto, Wado Akamatsu, Hideki Ukai, Hiroki R. Ueda, Kaoru Ogawa, Tatsuo Matsunaga, Hideyuki Okano; 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; SKIP001751
Encyclopedic resources	Wikidata; Q54946863
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10