ID   CPGHi005-A
AC   CVCL_B5QQ
DR   BioSamples; SAMEA12097270
DR   hPSCreg; CPGHi005-A
DR   Wikidata; Q111733133
RX   PubMed=35691110;
CC   From: Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:11190; SOX10; Unexplicit; SVA-F retrotransposon insertion in intron 2; Zygosity=Heterozygous (PubMed=35691110).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85222; Waardenburg syndrome
DI   ORDO; Orphanet_3440; Waardenburg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 6
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RX   PubMed=35691110; DOI=10.1016/j.scr.2022.102831;
RA   Li X.-H., Gao X., Huang S.-S., Han M.-Y., Kang D.-Y., Yang J.-Y.,
RA   Wu X.-D., Zheng Q.-C., Yuan Y.-Y., Dai P., Wang G.-J.;
RT   "Establishment of an iPSC line (CPGHi005-A) from a patient with
RT   Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon
RT   insertion into SOX10.";
RL   Stem Cell Res. 62:102831-102831(2022).
//