ID   EMCi127-A
AC   CVCL_YZ93
SY   EMC127i-A; ACD871C4
DR   hPSCreg; EMCi127-A
DR   Wikidata; Q98125962
RX   PubMed=32169823;
CC   From: Erasmus University Medical Center; Rotterdam; Netherlands.
CC   Sequence variation: Mutation; HGNC; HGNC:3809; FOXF1; Simple; p.Leu56Val (c.166C>G); ClinVar=VCV000869491; Zygosity=Heterozygous (PubMed=32169823).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98809; Alveolar capillary dysplasia
DI   ORDO; Orphanet_210122; Congenital alveolar capillary dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YZ94 ! EMCi127-B
SX   Male
AG   <1M
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=32169823; DOI=10.1016/j.scr.2020.101745;
RA   Slot, Evelien
RA   de Klein, Annelies
RA   Rottier, Robbert 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).
//