ID   LUMCi030-B
AC   CVCL_ZA39
SY   LUMC0110iALK10
DR   BioSamples; SAMEA6878126
DR   hPSCreg; LUMCi030-B
DR   Wikidata; Q98127103
RX   PubMed=32485642;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 175; ACVRL1; Simple; p.Arg374_Glu379del (c.1120_1137del18) (c.1120del18); Zygosity=Heterozygous (PubMed=32485642).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C35064; Hereditary hemorrhagic telangiectasia
DI   ORDO; Orphanet_774; Hereditary hemorrhagic telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZA38 ! LUMCi030-A
SX   Male
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32485642; DOI=10.1016/j.scr.2020.101786;
RA   Bouma M.J., Orlova V., van den Hil F.E., Mager H.-J., Baas F.,
RA   de Knijff P., Mummery C.L., Mikkers H.M.M., Freund C.M.A.H.;
RT   "Generation and genetic repair of 2 iPSC clones from a patient bearing
RT   a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to
RT   hereditary hemorrhagic telangiectasia (HHT) type 2.";
RL   Stem Cell Res. 46:101786-101786(2020).
//