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Cellosaurus HIMRi001-A (CVCL_D0F8)

[Text version]
Cell line name HIMRi001-A
Synonyms p.Q1662X FLNC hiPSCs
Accession CVCL_D0F8
Resource Identification Initiative To cite this cell line use: HIMRi001-A (RRID:CVCL_D0F8)
Comments From: Heimer Institute for Muscle Research; Bochum; Germany.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3756; FLNC; Simple; p.Gln1662Ter (c.4984C>T); ClinVar=VCV000852214; Zygosity=Heterozygous (PubMed=37748332).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 60Y
Category Induced pluripotent stem cell
Publications

PubMed=37748332; DOI=10.1016/j.scr.2023.103210
Daya N.M., Mavrommatis L., Zhuge H., Athamneh M.J., Roos A., Glaser D., Doring K., Zaehres H., Vorgerd M., Guttsches A.-K.
Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy.
Stem Cell Res. 72:103210-103210(2023)

Cross-references
Cell line databases/resources hPSCreg; HIMRi001-A
Biological sample resources BioSamples; SAMEA113971216
Encyclopedic resources Wikidata; Q123031672
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2