Cellosaurus KOLF2.1J UBQLN2 P506T REV/Y (CVCL_E7N2)
Cell line name | KOLF2.1J UBQLN2 P506T REV/Y |
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Synonyms | JIPSC001114 |
Accession | CVCL_E7N2 |
Resource Identification Initiative | To cite this cell line use: KOLF2.1J UBQLN2 P506T REV/Y (RRID:CVCL_E7N2) |
Comments | From: The Jackson Laboratory; Bar Harbor; USA. Population: Caucasian; British. Characteristics: Control cell line which is a CRISPR/Cas9 engineered revertant of the hemizygously edited UBQLN2 p.Pro506Thr (c.1516C>A) cell line (JAX=JIPSC001114). Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620. |
Sequence variations |
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Disease | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (NCIt: C214855) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872) |
Species of origin | Homo sapiens (Human) (NCBI Taxonomy: 9606) |
Hierarchy | Parent: CVCL_E7N3 (KOLF2.1J UBQLN2 P506T SNV/Y) |
Sex of cell | Male |
Age at sampling | 55-59Y |
Category | Induced pluripotent stem cell |
Web pages | Provider; JAX; JIPSC001114; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC001114 |
Entry history | |
Entry creation | 10-Apr-2025 |
Last entry update | 10-Apr-2025 |
Version number | 1 |