ID   IBMS-iPSC-030-06
AC   CVCL_QY31
SY   IBMSi004-A
DR   BCRC; SC81056
DR   BCRC; SC81057
DR   hPSCreg; IBMSi004-A
DR   SKIP; SKIP005652
DR   SKIP; SKIP005653
DR   Wikidata; Q54897199
RX   PubMed=29174977;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; HGNC:7470; MT-RNR1; Simple; m.1555A>G; ClinVar=VCV000009628; Zygosity=Unspecified (PubMed=29174977).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29174977
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 11,12
ST   D16S539: 9,13
ST   D18S51: 15,22
ST   D19S433: 13,14
ST   D21S11: 30,31
ST   D2S1338: 17,24
ST   D3S1358: 15,17
ST   D5S818: 9,11
ST   D7S820: 11,12
ST   D8S1179: 13,14
ST   FGA: 24,26
ST   TH01: 7
ST   TPOX: 8,9
ST   vWA: 16,17
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   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=29174977; DOI=10.1016/j.scr.2017.10.024;
RA   Hsu Y.-H., Wu Y.-T., Huang C.-Y., Ho M.-C., Cheng Y.-C., Syu S.-H.,
RA   Lu H.-E., Chen Y.-C., Tsai C.-L., Lin H.-C., Wei Y.-H., Hsu Y.-C.,
RA   Hsieh P.C.-H.;
RT   "Generation of an induced pluripotent stem cell line from a
RT   39-year-old female patient with severe-to-profound non-syndromic
RT   sensorineural hearing loss and a A1555G mutation in the mitochondrial
RT   MTRNR1 gene.";
RL   Stem Cell Res. 25:245-249(2017).
//