ID   XYFMGG16M
AC   CVCL_RZ78
DR   JCRB; JCRB1752
DR   Wikidata; Q54995104
RX   PubMed=8353496;
RX   PubMed=29330774;
CC   Sequence variation: Mutation; HGNC; HGNC:11311; SRY; Simple; p.Arg62Gly (c.184C>G); Zygosity=Hemizygous (PubMed=8353496).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): JCRB=JCRB1752
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 11,12
ST   D16S539: 11,14
ST   D5S818: 13
ST   D7S820: 11,13
ST   TH01: 7,9.3
ST   TPOX: 8
ST   vWA: 14,19
DI   NCIt; C128188; 46,XY sex reversal 1
DI   ORDO; Orphanet_242; 46,XY complete gonadal dysgenesis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex ambiguous
AG   41Y
CA   Transformed cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=8353496; DOI=10.1093/hmg/2.6.785;
RA   Affara N.A., Chalmers I.J., Ferguson-Smith M.A.;
RT   "Analysis of the SRY gene in 22 sex-reversed XY females identifies
RT   four new point mutations in the conserved DNA binding domain.";
RL   Hum. Mol. Genet. 2:785-789(1993).
//
RX   PubMed=29330774; DOI=10.1007/s13577-017-0195-5;
RA   Kasai F., Ferguson-Smith M.A.;
RT   "A collection of XY female cell lines.";
RL   Hum. Cell 31:175-178(2018).
//