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Cellosaurus ND50046 (CVCL_RH40)

[Text version]
Cell line name ND50046
Accession CVCL_RH40
Resource Identification Initiative To cite this cell line use: ND50046 (RRID:CVCL_RH40)
Comments Population: Caucasian; Polish.
Donor information: At sampling donor was not affected with frontotemporal dementia but at risk for disease.
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 (from parent cell line).
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_EY84 (ND32955)
Children:
CVCL_RY40 (ND50098)CVCL_RY41 (ND50099)
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; ND50046
Cell line databases/resources SKIP; SKIP001653
Encyclopedic resources Wikidata; Q54930268
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number12