ID   EMCi128-A
AC   CVCL_YZ95
SY   EMC128i-A; ACD874C9
DR   hPSCreg; EMCi128-A
DR   Wikidata; Q98125965
RX   PubMed=32169823;
CC   From: Erasmus University Medical Center; Rotterdam; Netherlands.
CC   Sequence variation: Mutation; HGNC; 3809; FOXF1; Simple; p.Phe85Ile (c.253T>A); 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
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).
//