ID   EMCi127-B
AC   CVCL_YZ94
SY   EMC127i-B; ACD871C8
DR   hPSCreg; EMCi127-B
DR   Wikidata; Q98125964
RX   PubMed=32169823;
CC   From: Erasmus University Medical Center; Rotterdam; Netherlands.
CC   Sequence variation: Mutation; HGNC; 3809; FOXF1; Simple; p.Leu56Val (c.166C>G); ClinVar=VCV000869491; Zygosity=Heterozygous (PubMed=32169823).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C98809; Alveolar capillary dysplasia
DI   ORDO; Orphanet_210122; Congenital alveolar capillary dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_YZ93 ! EMCi127-A
SX   Male
AG   <1M
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 17-03-22; Version: 4
//
RX   PubMed=32169823; DOI=10.1016/j.scr.2020.101745;
RA   Slot E., de Klein A., Rottier R.J.;
RT   "Generation of three iPSC lines from two patients with heterozygous
RT   FOXF1 mutations associated to alveolar capillary dysplasia with
RT   misalignment of the pulmonary veins.";
RL   Stem Cell Res. 44:101745-101745(2020).
//