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Cellosaurus MEN1 point mutation iPS-M22 (CVCL_JL82)

[Text version]
Cell line name MEN1 point mutation iPS-M22
Accession CVCL_JL82
Resource Identification Initiative To cite this cell line use: MEN1 point mutation iPS-M22 (RRID:CVCL_JL82)
Comments Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations
  • Mutation; HGNC; HGNC:7010; MEN1; Simple_edited; p.Glu430Ter (c.1288G>T); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=28395809).
Disease Multiple endocrine neoplasia type 1 (NCIt: C3225)
Multiple endocrine neoplasia type 1 (ORDO: Orphanet_652)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_RH99 (UiPSC-015)
Sex of cell Male
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=28395809; DOI=10.1016/j.scr.2016.12.007
Guo D.-S., Liu H.-K., Gao G., Liu Y.-L., Zhuang Y.-Q., Yang F., Wang K.-P., Zhou T.-C., Qin D.-J., Hong L.-Q., Li J.-L., Xu K.-C., Li Y.-X.
Creating a patient carried Men1 gene point mutation on wild type iPSCs locus mediated by CRISPR/Cas9 and ssODN.
Stem Cell Res. 18:67-69(2017)

Cross-references
Encyclopedic resources Wikidata; Q54905196
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number14