ID   SP212Corr
AC   CVCL_WN81
DR   Wikidata; Q98132806
RX   PubMed=28965766;
CC   Sequence variation: Mutation; HGNC; HGNC:10801; SFTPB; Simple_corrected; p.Pro121Glufs*95 (c.361delCinsGAA) (121ins2); ClinVar=VCV000013201; Zygosity=Homozygous; Note=By CRISPR/Cas9 (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)
HI   CVCL_WN80 ! SP212
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).
//