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Cellosaurus LDS-iPSC8 (CVCL_DQ94)

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Cell line name LDS-iPSC8
Accession CVCL_DQ94
Resource Identification Initiative To cite this cell line use: LDS-iPSC8 (RRID:CVCL_DQ94)
Comments From: Department of Dermatology, Jikei University School of Medicine; Tokyo; Japan.
Population: Japanese.
Cell type: T-cell; CL=CL_0000084.
Sequence variations
  • Mutation; HGNC; HGNC:3801; FOXC2; Simple; c.724_727delCGCAinsAG; Zygosity=Unspecified (PubMed=27346194).
Disease Lymphedema-distichiasis syndrome (NCIt: C128191)
Lymphedema-distichiasis syndrome (ORDO: Orphanet_33001)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 18Y
Category Induced pluripotent stem cell
Publications

PubMed=27346194; DOI=10.1016/j.scr.2016.03.004
Munenari Itoh, Shiho Kawagoe, Hirotaka James Okano, Hidemi Nakagawa;
Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with lymphedema-distichiasis syndrome (LDS) carrying an insertion-deletion complex mutation in the FOXC2 gene.
Stem Cell Res. 16:611-613(2016)

Cross-references
Encyclopedic resources Wikidata; Q54902394
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number9