Cellosaurus cell line UMGWi001-B (CVCL

Cross-references
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; 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 Martin Franz, Lisa Hagenau, Robert Koch, Sascha Neubauer, Bjorn Nowack, Ana Tzvetkova, Lars Riff Jensen, Andreas W. Kuss; 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)
Cell line databases/resources	hPSCreg; UMGWi001-B
Biological sample resources	BioSamples; SAMEA7222557
Encyclopedic resources	Wikidata; Q105511626
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6