ID   SHAMUi001-A
AC   CVCL_A1DL
DR   hPSCreg; SHAMUi001-A
DR   Wikidata; Q102114917
RX   PubMed=32979630;
CC   From: The Second Affiliated Hospital of Army Medical University; Chongqing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 29186; ANKRD26; Simple; c.-128G>T; ClinVar=VCV000812728; Zygosity=Heterozygous (PubMed=32979630).
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
ST   Source(s): PubMed=32979630
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D12S391: 17,19
ST   D13S317: 8,11
ST   D16S539: 9
ST   D18S51: 14,20
ST   D19S433: 13,14.2
ST   D2S1338: 23,24
ST   D3S1358: 15,17
ST   D5S818: 10,12
ST   D7S820: 11
ST   D8S1179: 13,14
ST   FGA: 24,27
ST   Penta D: 8,13
ST   Penta E: 5
ST   TH01: 8,9
ST   TPOX: 8
ST   vWA: 14
DI   NCIt; C129035; Thrombocytopenia 2
DI   ORDO; Orphanet_268322; Hereditary thrombocytopenia with normal platelets
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32979630; DOI=10.1016/j.scr.2020.102002;
RA   Tan C.-N., Dai L.-M., Yang W.-C., Li F.-J., Wang L., Xiao Y.-N.,
RA   Wang X.-J., Zhang Y.-C., Wang Y.-L., Zeng C., Xiang Z., Zhang X.-M.,
RA   Zhang W.-W., Ran Q., Chen M.-S., Li Z.-J., Chen L.;
RT   "Generation of the human induced pluripotent stem cell line
RT   (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the
RT   5'-UTR of the ANKRD26 gene.";
RL   Stem Cell Res. 48:102002-102002(2020).
//