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Cellosaurus H224 C2 (CVCL_IK96)

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Cell line name H224 C2
Synonyms H224 clone 2
Accession CVCL_IK96
Resource Identification Initiative To cite this cell line use: H224 C2 (RRID:CVCL_IK96)
Comments From: Bioneer A/S; Horsholm; Denmark.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Ser305Ile (c.914G>T) (S622I, c.1865G>T or S640I, c.1919G>T); ClinVar=VCV001256161; Zygosity=Heterozygous (PubMed=27789411).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=27789411; DOI=10.1016/j.scr.2016.10.006
Natakarn Nimsanor, Ida Jorring, Mikkel Aabech Rasmussen, Christian Clausen, Ulrike A. Mau-Holzmann, Narisorn Kitiyanant, Jorgen E. Nielsen, Troels T. Nielsen, Poul Hyttel, Bjorn Holst, Benjamin Schmid;
Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia.
Stem Cell Res. 17:564-567(2016)

Cross-references
Cell line databases/resources SKIP; SKIP003202
Encyclopedic resources Wikidata; Q54872019
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number15