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Cellosaurus LZUi002-A (CVCL_C0H7)

[Text version]
Cell line name LZUi002-A
Synonyms iPSC 81
Accession CVCL_C0H7
Resource Identification Initiative To cite this cell line use: LZUi002-A (RRID:CVCL_C0H7)
Comments From: Lanzhou University Second Hospital; Lanzhou; China.
Population: Chinese/Asian ethnic group: Uyghur.
Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11585; TBL1X; Simple; c.342_343insGCGGCG; Zygosity=Hemizygous (PubMed=35339883).
Disease Deafness (NCIt: C27644)
Non-syndromic genetic deafness (ORDO: Orphanet_87884)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 34Y
Category Induced pluripotent stem cell
Publications

PubMed=35339883; DOI=10.1016/j.scr.2022.102761
Wang Y.-L., Liu Z.-P., Chen C., Li Y., Guan M.-X., Xu B.-C., Guo Y.-F.
Verification of an iPSC line (LZUi002-A) from a patient with a novel mutation in the TBL1X gene.
Stem Cell Res. 61:102761-102761(2022)

Cross-references
Cell line databases/resources hPSCreg; LZUi002-A
Encyclopedic resources Wikidata; Q112930034
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number5