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Cellosaurus UMi031-A-2 (CVCL_A0ZU)

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Cell line name UMi031-A-2
Synonyms PGP-1 clone L5; HVRDi004-B-2
Accession CVCL_A0ZU
Resource Identification Initiative To cite this cell line use: UMi031-A-2 (RRID:CVCL_A0ZU)
Comments From: Miller School of Medicine, University of Miami; Miami; USA.
Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7773; NF2; Simple_edited; p.Leu64Pro (c.191T>C); ClinVar=VCV001006297; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=34352618).
Disease Neurofibromatosis type 2 (NCIt: C3274)
Neurofibromatosis type 2 (ORDO: Orphanet_637)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F182 (GM23338)
Sex of cell Male
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=34352618; DOI=10.1016/j.scr.2021.102474
Aida Nourbakhsh, Nicholas C. Gosstola, Cristina Fernandez-Valle, Derek M. Dykxhoorn, Xue-Zhong Liu;
Characterization of UMi031-A-2 inducible pluripotent stem cell line with a neurofibromatosis type 2-associated mutation.
Stem Cell Res. 55:102474-102474(2021)

Cross-references
Cell line databases/resources hPSCreg; UMi031-A-2
Encyclopedic resources Wikidata; Q108821454
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number7