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Cellosaurus UMGWi001-B (CVCL_A1XF)

[Text version]
Cell line name UMGWi001-B
Synonyms Z1-K3v3; Z1 K3v3
Accession CVCL_A1XF
Resource Identification Initiative To cite this cell line use: UMGWi001-B (RRID:CVCL_A1XF)
Comments From: Department of Functional Genomics - Human Molecular Genetics, University Medicine Greifswald; Greifswald; Germany.
Derived from site: In situ; Oral cavity, gingiva; UBERON=UBERON_0001828.
Cell type: Fibroblast of gingiva; CL=CL_0002552.
Sequence variations
  • Mutation; HGNC; 16974; SRCAP; Simple; p.Arg2444Ter (c.7330C>T); ClinVar=VCV000030908; Zygosity=Heterozygous (PubMed=33099107).
Disease Floating-Harbor syndrome (NCIt: C175241)
Floating-Harbor syndrome (ORDO: Orphanet_2044)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=33099107; DOI=10.1016/j.scr.2020.102028
Franz M., Hagenau L., Koch R., Neubauer S., Nowack B., Tzvetkova A., Jensen L.R., Kuss A.W.
Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444).
Stem Cell Res. 49:102028-102028(2020)

Cross-references
Cell line databases/resources hPSCreg; UMGWi001-B
Biological sample resources BioSamples; SAMEA7222557
Encyclopedic resources Wikidata; Q105511626
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5