Cellosaurus logo
expasy logo

Cellosaurus LUMCi030-B-1 (CVCL_ZL48)

[Text][XML][JSON]
Cell line name LUMCi030-B-1
Synonyms iso01LUMC0110iALK10
Accession CVCL_ZL48
Resource Identification Initiative To cite this cell line use: LUMCi030-B-1 (RRID:CVCL_ZL48)
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.Arg374_Glu379del (c.1120_1137del18); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32485642).
Disease Hereditary hemorrhagic telangiectasia (NCIt: C35064)
Hereditary hemorrhagic telangiectasia (ORDO: Orphanet_774)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZA39 (LUMCi030-B)
Sex of cell Male
Age at sampling 42Y
Category Induced pluripotent stem cell
Publications

PubMed=32485642; DOI=10.1016/j.scr.2020.101786
Marga J. Bouma, Valeria V. Orlova, Francijna E. van den Hil, Hans-Jurgen Mager, Frank Baas, Peter de Knijff, Christine Lindsay Mummery, Harald M.M. Mikkers, Christian M.A.H. Freund;
Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to hereditary hemorrhagic telangiectasia (HHT) type 2.
Stem Cell Res. 46:101786-101786(2020)

Cross-references
Cell line databases/resources hPSCreg; LUMCi030-B-1
Biological sample resources BioSamples; SAMEA6878128
Encyclopedic resources Wikidata; Q98127105
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7