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Cellosaurus JUFMDOi005-A (CVCL_YM41)

[Text version]
Cell line name JUFMDOi005-A
Synonyms GP005
Accession CVCL_YM41
Resource Identification Initiative To cite this cell line use: JUFMDOi005-A (RRID:CVCL_YM41)
Comments From: Department of Otorhinolaryngology, Juntendo University Faculty of Medicine; Tokyo; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Homozygous (PubMed=32745712).
Disease Deafness, autosomal recessive 1A (NCIt: C129022)
Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32745712

Markers:
AmelogeninX,Y
CSF1PO9,12
D3S135816,17
D5S81810,11
D7S82011,13
D8S117912,14
D13S31711,14
D16S53910,11
D18S5113,15
D21S1129,30
FGA22,23
Penta D10,11
Penta E10,11
TH019
TPOX8
vWA16

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Publications

PubMed=32745712; DOI=10.1016/j.scr.2020.101910
Fukunaga I., Shirai K., Oe Y., Danzaki K., Ohta S., Shiga T., Chen C., Ikeda K., Akamatsu W., Kawano A., Kamiya K.
Generation of two induced pluripotent stem cell lines from PBMCs of siblings carrying c.235delC mutation in the GJB2 gene associated with sensorineural hearing loss.
Stem Cell Res. 47:101910-101910(2020)

Cross-references
Cell line databases/resources hPSCreg; JUFMDOi005-A
Encyclopedic resources Wikidata; Q94332581
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6