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Cellosaurus LUMCi017-A-2 (CVCL_F1J5)

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Cell line name LUMCi017-A-2
Synonyms Iso02LUMC0111iALK07
Accession CVCL_F1J5
Resource Identification Initiative To cite this cell line use: LUMCi017-A-2 (RRID:CVCL_F1J5)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:175; ACVRL1; Simple_corrected; p.Asp348Thrfs*6 (c.1042delG); ClinVar=VCV000569067; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=40876070).
Disease Hereditary hemorrhagic telangiectasia (NCIt: C35064)
Hereditary hemorrhagic telangiectasia (ORDO: Orphanet_774)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZA21 (LUMCi017-A)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=40876070; DOI=10.1016/j.scr.2025.103812
Kendy Eduardo Urdaneta, Francijna E. van den Hil, Marga J. Bouma, Herak Manjikian, Christine Lindsay Mummery, Christian M.A.H. Freund, Valeria V. Orlova, Sebastiaan Johannes van Kampen;
Generation of patient-derived and gene-corrected hiPSC lines from hereditary hemorrhagic telangiectasia type 2 patients with ACVRL1 c.1042delG mutation.
Stem Cell Res. 88:103812-103812(2025)

Cross-references
Cell line databases/resources hPSCreg; LUMCi017-A-2
Biological sample resources BioSamples; SAMEA118678315
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1