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Cellosaurus XYFMGG16M (CVCL_RZ78)

[Text version]
Cell line name XYFMGG16M
Accession CVCL_RZ78
Resource Identification Initiative To cite this cell line use: XYFMGG16M (RRID:CVCL_RZ78)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11311; SRY; Simple; p.Arg62Gly (c.184C>G); Zygosity=Hemizygous (PubMed=8353496).
Disease 46,XY sex reversal 1 (NCIt: C128188)
46,XY complete gonadal dysgenesis (ORDO: Orphanet_242)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex ambiguous
Age at sampling 41Y
Category Transformed cell line
STR profile Source(s): JCRB

Markers:
AmelogeninX,Y
CSF1PO10,11
D5S81813
D7S82011,13
D13S31711,12
D16S53911,14
TH017,9.3
TPOX8
vWA14,19

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Publications

PubMed=8353496; DOI=10.1093/hmg/2.6.785
Affara N.A., Chalmers I.J., Ferguson-Smith M.A.
Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.
Hum. Mol. Genet. 2:785-789(1993)

PubMed=29330774; DOI=10.1007/s13577-017-0195-5
Kasai F., Ferguson-Smith M.A.
A collection of XY female cell lines.
Hum. Cell 31:175-178(2018)

Cross-references
Cell line collections (Providers) JCRB; JCRB1752
Encyclopedic resources Wikidata; Q54995104
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number8