ID   LUMCi017-A-2
AC   CVCL_F1J5
SY   Iso02LUMC0111iALK07
DR   BioSamples; SAMEA118678315
DR   hPSCreg; LUMCi017-A-2
RX   PubMed=40876070;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:175; ACVRL1; Simple_corrected; p.Asp348Thrfs*6 (c.1042delG); ClinVar=VCV000569067; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=40876070).
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)
HI   CVCL_ZA21 ! LUMCi017-A
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//
RX   PubMed=40876070; DOI=10.1016/j.scr.2025.103812;
RA   Urdaneta, Kendy Eduardo
RA   van den Hil, Francijna E.
RA   Bouma, Marga J.
RA   Manjikian, Herak
RA   Mummery, Christine Lindsay
RA   Freund, Christian M.A.H.
RA   Orlova, Valeria V.
RA   van Kampen, Sebastiaan Johannes
RT   "Generation of patient-derived and gene-corrected hiPSC lines from
RT   hereditary hemorrhagic telangiectasia type 2 patients with ACVRL1
RT   c.1042delG mutation.";
RL   Stem Cell Res. 88:103812-103812(2025).
//