ID   SZ-Kennedy
AC   CVCL_Y341
SY   SZ-Kennedy PGD; SZ-SBMA
DR   NIHhESC; NIHhESC-20-0459
DR   Wikidata; Q54971317
RX   PubMed=21585244;
WW   https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
CC   From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0459.
CC   Sequence variation: Mutation; HGNC; HGNC:644; AR; Repeat_expansion; (CAG)>40 (c.172_174CAG(10_36)); ClinVar=VCV000009818; Zygosity=Unspecified (NIHhESC=NIHhESC-20-0459).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
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   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 07-11-14; Last updated: 19-12-24; Version: 13
//
RX   PubMed=21585244; DOI=10.1089/scd.2011.0102; PMCID=PMC3272241;
RA   Ben-Yosef D., Amit A., Malcov M., Frumkin T., Ben-Yehudah A.,
RA   Eldar I., Mey-Raz N., Azem F., Altarescu G., Renbaum P., Beeri R.,
RA   Varshaver I., Eldar-Geva T., Epsztejn-Litman S., Levy-Lahad E.,
RA   Eiges R.;
RT   "Female sex bias in human embryonic stem cell lines.";
RL   Stem Cells Dev. 21:363-372(2012).
//