ID   KEIUi008-A
AC   CVCL_E4E1
SY   A1555G
DR   BioSamples; SAMEA115405392
DR   hPSCreg; KEIUi008-A
RX   PubMed=38815527;
CC   From: Keio University; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:7470; MT-RNR1; Simple; m.1555A>G; ClinVar=VCV000009628; Zygosity=Homoplasmic (PubMed=38815527).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148321; Mitochondrially inherited nonsyndromic sensorineural deafness
DI   ORDO; Orphanet_90641; Mitochondrial non-syndromic sensorineural deafness
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=38815527; DOI=10.1016/j.scr.2024.103452;
RA   Masano Y., Saegusa C., Ishikawa M., Matsunaga T., Okano H., Fujioka M.;
RT   "Generation of an induced pluripotent stem cell line (KEIUi008-A) from
RT   a hearing loss patient with an A1555G mutation in mitochondrial DNA.";
RL   Stem Cell Res. 78:103452-103452(2024).
//