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Cellosaurus H251 C3 GC (CVCL_IK97)

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Cell line name H251 C3 GC
Synonyms H251 clone 3 GC
Accession CVCL_IK97
Resource Identification Initiative To cite this cell line use: H251 C3 GC (RRID:CVCL_IK97)
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_corrected; p.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=27789409).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_DQ56 (H251 C3)
Sex of cell Female
Age at sampling 57Y
Category Induced pluripotent stem cell
Publications

PubMed=27789409; DOI=10.1016/j.scr.2016.09.021
Natakarn Nimsanor, Narisorn Kitiyanant, Ulla Bekker Poulsen, Mikkel Aabech Rasmussen, Christian Clausen, Ulrike A. Mau-Holzmann, Jorgen E. Nielsen, Troels T. Nielsen, Poul Hyttel, Bjorn Holst, Benjamin Schmid;
Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene.
Stem Cell Res. 17:556-559(2016)

Cross-references
Encyclopedic resources Wikidata; Q54872026
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number14