ID   UMi029-A
AC   CVCL_A1XG
SY   UMNSDF215-001 clone 1
DR   hPSCreg; UMi029-A
DR   Wikidata; Q105511629
RX   PubMed=34052664;
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11122; SMPX; Simple; p.Gly45Valfs*36 (c.133-1G>A); ClinVar=VCV000417903; Zygosity=Hemizygous; Note=Splice acceptor mutation (PubMed=34052664).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=34052664
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 12
ST   D16S539: 11,13
ST   D18S51: 12,18
ST   D21S11: 29,31
ST   D3S1358: 16,17
ST   D5S818: 11,12
ST   D7S820: 7,11
ST   D8S1179: 10,13
ST   FGA: 19,24
ST   Penta D: 11,12
ST   Penta E: 5,15
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 15
DI   NCIt; C180844; X-linked deafness-4
DI   ORDO; Orphanet_90625; X-linked non-syndromic sensorineural deafness type DFN
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
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RX   PubMed=34052664; DOI=10.1016/j.scr.2021.102405;
RA   Dykxhoorn D.M., Tong X.-Y., Gosstola N.C., Liu X.-Z.;
RT   "Derivation of iPSC line UMi029-A bearing a hearing-loss associated
RT   variant in the SMPX gene.";
RL   Stem Cell Res. 54:102405-102405(2021).
//