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Cellosaurus JUFMDOi006-A (CVCL_YM42)

[Text version]
Cell line name JUFMDOi006-A
Synonyms GP006
Accession CVCL_YM42
Resource Identification Initiative To cite this cell line use: JUFMDOi006-A (RRID:CVCL_YM42)
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 4Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32745712

Markers:
AmelogeninX,Y
CSF1PO9,12
D3S135816,17
D5S81810,11
D7S8208,12
D8S117912,17
D13S31711,13
D16S5399,10
D18S5113
D21S1129,30
FGA22
Penta D10
Penta E11,18
TH017,9
TPOX8,11
vWA16,18

Run an STR similarity search on this cell line
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; JUFMDOi006-A
Encyclopedic resources Wikidata; Q94332587
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6