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Cellosaurus KLRMMEi002-A (CVCL_B6RR)

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Cell line name KLRMMEi002-A
Synonyms XT142-iPS
Accession CVCL_B6RR
Resource Identification Initiative To cite this cell line use: KLRMMEi002-A (RRID:CVCL_B6RR)
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=35152177).
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 42Y
Category Induced pluripotent stem cell
Publications

PubMed=35152177; DOI=10.1016/j.scr.2022.102699
Li-Ying Liang, Yun-Xia Xue, Cai-Ying Su, Jia-Ning Wang, Lu-Yin Chen, Ting Su, Jian-Yu Ke, Lin-Yao Xie, Ze-Kai Cui, Quan Yu, Hon-Fai Chan ...Show all 14 authors... , Jing-Xiang Zhong, Yong-Long Guo, Jian-Su Chen; Show fewer authors
Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome.
Stem Cell Res. 60:102699-102699(2022)

Cross-references
Cell line databases/resources hPSCreg; KLRMMEi002-A
Biological sample resources BioSamples; SAMEA11644680
Encyclopedic resources Wikidata; Q111733553
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5