ID   SFPHi001-A
AC   CVCL_C9LX
SY   GD09031
DR   BioSamples; SAMEA113414143
DR   hPSCreg; SFPHi001-A
DR   Wikidata; Q123033476
RX   PubMed=37385134;
CC   From: Shanghai Fifth People's Hospital; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 775; SERPINC1; Simple; p.Arg79His (c.236G>A); ClinVar=VCV000018014; Zygosity=Heterozygous (PubMed=37385134).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98815; Antithrombin III deficiency
DI   ORDO; Orphanet_82; Hereditary thrombophilia due to congenital antithrombin deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37385134; DOI=10.1016/j.scr.2023.103150;
RA   Chen W.-J., Wang Y.-Y., Shen L.-W., Huang S.-W., Yang X.-L., Wu D.-H.;
RT   "Human induced pluripotent stem cells derived from a patient with a
RT   mutation of SERPINC1 c.236G>A (p.R79H).";
RL   Stem Cell Res. 71:103150-103150(2023).
//