ID   SFMUi001-A
AC   CVCL_C1WG
DR   BioSamples; SAMEA110645264
DR   hPSCreg; SFMUi001-A
DR   Wikidata; Q114312990
RX   PubMed=37126974;
CC   From: Shandong First Medical University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Ser180Pro (c.538T>C); ClinVar=VCV000554033; Zygosity=Heterozygous (PubMed=37126974).
CC   Sequence variation: Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Cys934Trp (c.2802T>G); ClinVar=VCV000143179; Zygosity=Heterozygous (PubMed=37126974).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126328; Usher syndrome type 2
DI   ORDO; Orphanet_231178; Usher syndrome type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=37126974; DOI=10.1016/j.scr.2023.103101;
RA   Qiu, Shi-Dong
RA   Zhang, Xiao-Hui
RA   Zhang, Lei
RA   Liu, Zeng-Xiang
RA   Wang, Luan-Luan
RA   Jin, Zi-Bing
RA   Xiao, Peng
RT   "Generation of the induced pluripotent stem cell line SFMUi001-A from
RT   a patient with Usher syndrome type 2 caused by biallelic variants in
RT   the USH2A gene.";
RL   Stem Cell Res. 69:103101-103101(2023).
//