ID   SP212
AC   CVCL_WN80
DR   Wikidata; Q98132805
RX   PubMed=28965766;
CC   Sequence variation: Mutation; HGNC; HGNC:10801; SFTPB; Simple; p.Pro121Glufs*95 (c.361delCinsGAA) (121ins2); ClinVar=VCV000013201; Zygosity=Homozygous (PubMed=28965766).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C99068; Pulmonary surfactant metabolism dysfunction-1
DI   ORDO; Orphanet_217563; Neonatal acute respiratory distress due to SP-B deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5M
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=28965766; DOI=10.1016/j.stem.2017.08.014; PMCID=PMC5755620;
RA   Jacob A., Morley M., Hawkins F., McCauley K.B., Jean J.-C., Heins H.,
RA   Na C.-L., Weaver T.E., Vedaie M., Hurley K., Hinds A., Russo S.J.,
RA   Kook S., Zacharias W., Ochs M., Traber K., Quinton L.J., Crane A.M.,
RA   Davis B.R., White F.V., Wambach J., Whitsett J.A., Cole F.S.,
RA   Morrisey E.E., Guttentag S.H., Beers M.F., Kotton D.N.;
RT   "Differentiation of human pluripotent stem cells into functional lung
RT   alveolar epithelial cells.";
RL   Cell Stem Cell 21:472-488.e10(2017).
//