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Cellosaurus CSUASOi003-A (CVCL_YU32)

[Text version]
Cell line name CSUASOi003-A
Synonyms CRB1-BiPS
Accession CVCL_YU32
Resource Identification Initiative To cite this cell line use: CSUASOi003-A (RRID:CVCL_YU32)
Comments From: Central South University, Aier School of Ophthalmology; Changsha; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2343; CRB1; Simple; p.Gly750Asp (c.2249G>A); Zygosity=Heterozygous (PubMed=32244200).
  • Mutation; HGNC; 2343; CRB1; Simple; p.Ala937Thr (c.2809G>A); ClinVar=VCV000285879; Zygosity=Heterozygous (PubMed=32244200).
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 22Y
Category Induced pluripotent stem cell
Publications

PubMed=32244200; DOI=10.1016/j.scr.2020.101742
Zhou Y.-L., Ding C.-C., Xia S.-T., Jing Y.-T., Mao S.-R., Liu J., Chen J., Chan H.-F., Tang S.-B., Chen J.-S.
Establishment of induced pluripotent stem cell line CSUASOi003-A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene.
Stem Cell Res. 44:101742-101742(2020)

Cross-references
Cell line databases/resources hPSCreg; CSUASOi003-A
SKIP; SKIP005694
Encyclopedic resources Wikidata; Q93459762
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7