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Cellosaurus KLRMMEi003-A (CVCL_C6QB)

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Cell line name KLRMMEi003-A
Synonyms XM146-iPS
Accession CVCL_C6QB
Resource Identification Initiative To cite this cell line use: KLRMMEi003-A (RRID:CVCL_C6QB)
Comments From: Key Laboratory for Regenerative Medicine of Ministry of Education, Jinan University; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12601; USH2A; Simple; c.8559-2A>G (p.Tyr2854_Arg2894del); ClinVar=VCV000048604; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=36863132).
Disease Usher syndrome type 2 (NCIt: C126328)
Usher syndrome type 2 (ORDO: Orphanet_231178)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=36863132; DOI=10.1016/j.scr.2023.103055
Lu-Yin Chen, Jia-Ning Wang, Ting-Ting Yang, Lin-Yao Xie, Ze-Kai Cui, Quan Yu, Jing-Xiang Zhong, Hon-Fai Chan, Yun-Xia Xue, Yong-Long Guo, Jian-Su Chen;
Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation.
Stem Cell Res. 68:103055-103055(2023)

Cross-references
Cell line databases/resources hPSCreg; KLRMMEi003-A
Biological sample resources BioSamples; SAMEA112202912
Encyclopedic resources Wikidata; Q117704573
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3