ID   CSUXHi004-A
AC   CVCL_A2YC
DR   BioSamples; SAMEA7873284
DR   hPSCreg; CSUXHi004-A
DR   Wikidata; Q105506721
RX   PubMed=33774334;
CC   From: Department of Neurology, Xiangya Hospital of Central South University; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:8617; PAX3; Simple; c.452-2A>G; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=33774334).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75008; Waardenburg syndrome type 1
DI   ORDO; Orphanet_3440; Waardenburg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 5
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RX   PubMed=33774334; DOI=10.1016/j.scr.2021.102300;
RA   Wen, Jie
RA   He, Chu-Feng
RA   Feng, Yong
RA   Song, Jian
RA   Liu, Jing
RA   Liu, Xian-Lin
RA   Mei, Ling-Yun
RA   Ling, Jie
RA   Chen, Hong-Sheng
RA   Liu, Ya-Lan
RT   "Establishment of an iPSC line (CSUXHi004-A) from a patient with
RT   Waardenburg syndrome type I caused by a PAX3 splice mutation.";
RL   Stem Cell Res. 53:102300-102300(2021).
//