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Cellosaurus H251 C3 (CVCL_DQ56)

[Text version]
Cell line name H251 C3
Synonyms H251 clone 3
Accession CVCL_DQ56
Resource Identification Initiative To cite this cell line use: H251 C3 (RRID:CVCL_DQ56)
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.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Heterozygous (PubMed=27345788).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_IK97 (H251 C3 GC)
Sex of cell Female
Age at sampling 57Y
Category Induced pluripotent stem cell
Publications

PubMed=27345788; DOI=10.1016/j.scr.2015.12.008
Rasmussen M.A., Hjermind L.E., Hasholt L.F., Waldemar G., Nielsen J.E., Clausen C., Hyttel P., Holst B.
Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein Tau (MAPT).
Stem Cell Res. 16:70-74(2016)

PubMed=27789409; DOI=10.1016/j.scr.2016.09.021
Nimsanor N., Kitiyanant N., Poulsen U.B., Rasmussen M.A., Clausen C., Mau-Holzmann U.A., Nielsen J.E., Nielsen T.T., Hyttel P., Holst B., Schmid B.
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
Cell line databases/resources SKIP; SKIP003200
Encyclopedic resources Wikidata; Q54872025
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number16