ID   AMUFAHi001-A
AC   CVCL_A8KW
SY   AY0913-iPSC
DR   BioSamples; SAMEA8409914
DR   hPSCreg; AMUFAHi001-A
DR   Wikidata; Q108819852
RX   PubMed=34088001;
CC   From: The First Affiliated Hospital of Anhui Medical University; Anhui; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 18576; CCNO; Simple; p.Gln88Argfs*8 (c.253_257GGCCC[3]) (c.258_262dupGGCCC) (c.262_263insGGCCC); ClinVar=VCV000139600; Zygosity=Homozygous (PubMed=34088001).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=34088001
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D12S391: 17,18
ST   D13S317: 10
ST   D16S539: 9,12
ST   D18S51: 14,19
ST   D19S433: 12,13.2
ST   D21S11: 28,29,30
ST   D2S1338: 25,26
ST   D3S1358: 15
ST   D5S818: 10
ST   D6S1043: 12,14
ST   D7S820: 11
ST   D8S1179: 13,14
ST   FGA: 23,25
ST   Penta D: 9,11
ST   Penta E: 11,21
ST   TH01: 7
ST   TPOX: 8,12
ST   vWA: 17,18
DI   NCIt; C172393; Primary ciliary dyskinesia 29
DI   ORDO; Orphanet_244; Primary ciliary dyskinesia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34088001; DOI=10.1016/j.scr.2021.102372;
RA   Xu X., Dong L., Ma C., Xu X.-F., Wu H., Wang J.-Y., Zhou P.,
RA   Cao Y.-X., Wei Z.-L.;
RT   "Establishment of an induced pluripotent stem cell line from a patient
RT   with primary ciliary dyskinesia carrying biallelic mutations in CCNO.";
RL   Stem Cell Res. 53:102372-102372(2021).
//