ID   KMUGMCi001-A
AC   CVCL_B0W8
SY   KMUGMCi001ACVRL1
DR   BioSamples; SAMEA10129972
DR   hPSCreg; KMUGMCi001-A
DR   Wikidata; Q108820629
RX   PubMed=35279593;
CC   From: Kanazawa Medical University; Uchinada; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 175; ACVRL1; Simple; p.Phe259Lysfs*28 (c.772+3_772+4dup); Zygosity=Heterozygous (PubMed=35279593).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C35064; Hereditary hemorrhagic telangiectasia
DI   ORDO; Orphanet_774; Hereditary hemorrhagic telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
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RX   PubMed=35279593; DOI=10.1016/j.scr.2022.102743;
RA   Ura H., Togi S., Iwata Y., Ozaki M., Niida Y.;
RT   "Establishment of a human induced pluripotent stem cell line,
RT   KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 +
RT   4dup mutation in the ACVRL1 gene leading telangiectasia, hereditary
RT   hemorrhagic, type 2 (HHT2).";
RL   Stem Cell Res. 61:102743-102743(2022).
//