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Cellosaurus LUMCi030-A (CVCL_ZA38)

[Text version]
Cell line name LUMCi030-A
Synonyms LUMC0110iALK04; LUMCi019-A
Accession CVCL_ZA38
Secondary accession CVCL_ZA23
Resource Identification Initiative To cite this cell line use: LUMCi030-A (RRID:CVCL_ZA38)
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; 175; ACVRL1; Simple; p.Arg374_Glu379del (c.1120_1137del18) (c.1120del18); Zygosity=Heterozygous (PubMed=32485642).
Disease Hereditary hemorrhagic telangiectasia (NCIt: C35064)
Hereditary hemorrhagic telangiectasia (ORDO: Orphanet_774)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZL47 (LUMCi030-A-1)
Originate from same individual 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
Bouma M.J., Orlova V., van den Hil F.E., Mager H.-J., Baas F., de Knijff P., Mummery C.L., Mikkers H.M.M., Freund C.M.A.H.
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-A
Biological sample resources BioSamples; SAMEA6712310
Encyclopedic resources Wikidata; Q98127060
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number7