ID   SMCPGHi001-A
AC   CVCL_A1WW
SY   SMCPGHi-ABCA3; SMCPGi001-A
DR   BioSamples; SAMEA7462439
DR   hPSCreg; SMCPGHi001-A
DR   Wikidata; Q105511106
RX   PubMed=33839547;
CC   From: The Seven Medical Center of PLA General Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 33; ABCA3; Simple; p.Arg1333Glyfs*24 (c.3997_3998delAG); ClinVar=VCV001317554; Zygosity=Heterozygous (PubMed=33839547).
CC   Sequence variation: Mutation; HGNC; 33; ABCA3; Simple; p.Ala1046Val (c.3137C>T); Zygosity=Heterozygous (PubMed=33839547).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=33839547
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D12S391: 19,22
ST   D13S317: 8
ST   D16S539: 9
ST   D18S51: 14,16
ST   D19S433: 14
ST   D1S1656: 15,16
ST   D21S11: 30
ST   D2S1338: 20,22
ST   D3S1358: 17,18
ST   D5S818: 7,9
ST   D6S1043: 14,20
ST   D7S820: 10,12
ST   D8S1179: 12,13
ST   FGA: 20,21.2
ST   Penta D: 9,15
ST   Penta E: 17
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 16,17
DI   NCIt; C99070; Pulmonary surfactant metabolism dysfunction-3
DI   ORDO; Orphanet_440402; Interstitial lung disease due to ABCA3 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49D
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=33839547; DOI=10.1016/j.scr.2021.102286;
RA   Yin X.-J., Zhao D.-H., Tian Z.-C., Chen J., Chi J.-H., Ke Y., He L.,
RA   Zhang X., He Y.-M., Feng Z.-C.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with surfactant metabolism dysfunction carrying ABCA3 mutations.";
RL   Stem Cell Res. 53:102286-102286(2021).
//