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Cellosaurus KLRMMEi001-A (CVCL_VE03)

[Text version]
Cell line name KLRMMEi001-A
Synonyms CJ127-iPS
Accession CVCL_VE03
Resource Identification Initiative To cite this cell line use: KLRMMEi001-A (RRID:CVCL_VE03)
Comments From: Key Laboratory for Regenerative Medicine of Ministry of Education, Jinan University; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 12601; USH2A; Simple; p.Pro3043del (c.9127_9129delTCC); ClinVar=VCV000556050; Zygosity=Homozygous (PubMed=29660607).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 27Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29660607

Markers:
AmelogeninX,Y
CSF1PO10,12
D5S81810,13
D7S8209,10
D13S31712
D16S5399
D21S1129,32
TH017
TPOX8
vWA14,18

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Publications

PubMed=29660607; DOI=10.1016/j.scr.2018.03.022
Guo Y.-L., Zeng Q.-L., Liu S.-W., Yu Q., Wang P.-Y., Ma H.-J., Shi S.-S., Yan X., Cui Z.-K., Xie M.-Y., Xue Y.-X., Zha Q.-B., Li Z.-J., Zhang J., Tang S.-B., Chen J.-S.
Generation of an iPS cell line via a non-integrative method using urine-derived cells from a patient with USH2A-associated retinitis pigmentosa.
Stem Cell Res. 29:139-142(2018)

Cross-references
Cell line databases/resources hPSCreg; KLRMMEi001-A
Biological sample resources BioSamples; SAMEA104626790
Encyclopedic resources Wikidata; Q54900031
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number8