ID   GIS2014-SB3C16
AC   CVCL_QX35
DR   Wikidata; Q54835839
RX   PubMed=28395737;
CC   Sequence variation: Mutation; HGNC; HGNC:644; AR; Repeat_expansion; (CAG)43 (c.172_174CAG(10_36)); ClinVar=VCV000009818; Zygosity=Hemizygous (PubMed=28395737).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=28395737
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D10S1248: 13,15
ST   D12S391: 15,17
ST   D13S317: 8
ST   D16S539: 11
ST   D18S51: 13
ST   D19S433: 15,15.2
ST   D1S1656: 10,15
ST   D21S11: 28,30
ST   D22S1045: 17,19
ST   D2S1338: 20
ST   D2S441: 11,14
ST   D3S1358: 15,16
ST   D5S818: 12
ST   D7S820: 8,11
ST   D8S1179: 11,14
ST   DYS391: 10
ST   FGA: 23,25
ST   SE33: 28.2,31.2
ST   TH01: 6,9.3
ST   TPOX: 8,11
ST   vWA: 14,17
DI   NCIt; C85233; Spinal and bulbar muscular atrophy, X-linked 1
DI   ORDO; Orphanet_481; Kennedy disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 9
//
RX   PubMed=28395737; DOI=10.1016/j.scr.2017.02.005;
RA   Narayanan G., Sheila M., Chai J., Stanton L.W.;
RT   "Generation of sibling-matched induced pluripotent stem cell lines
RT   from spinal and bulbar muscular atrophy patients.";
RL   Stem Cell Res. 20:30-33(2017).
//