ID   CGMHi001-A
SY   CGMH.SLC26A4919-2
DR   hPSCreg; CGMHi001-A
RX   PubMed=31415960;
CC   From: Chang Gung Memorial Hospital, Lin-Kou Medical Centre, Chang Gung University; Tao-Yuan; Taiwan.
CC   Sequence variation: Homozygous for SLC26A4 c.919-2A>G (IVS7AS,A-G,-2); splice acceptor mutation (PubMed=31415960).
DI   NCIt; C158787; Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
DI   NCIt; C121745; Pendred syndrome
DI   ORDO; Orphanet_90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB
DI   ORDO; Orphanet_705; Pendred syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 12-03-20; Version: 4
RX   PubMed=31415960; DOI=10.1016/j.scr.2019.101524;
RA   Cheng Y.-F., Chan Y.-H., Hu C.-J., Lu Y.-C., Saeki T., Hosoya M.,
RA   Saegusa C., Fujioka M., Okano H., Weng S.-M., Hsu C.-J., Chang K.-H.,
RA   Wu C.-C.;
RT   "Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a
RT   Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site
RT   mutation.";
RL   Stem Cell Res. 40:101524-101524(2019).