Human Cell

, Volume 31, Issue 2, pp 175–178 | Cite as

A collection of XY female cell lines

  • Fumio Kasai
  • Malcolm A. Ferguson-Smith
Cell Line


Discordance between sexual phenotype and the 46,XY sex chromosome complement may be found in certain disorders of sexual development (DSD). Many of these DSD patients with female external genitalia and secondary sex characteristics have undescended testes and male internal genitalia. Causative mutations involving genes of the sex determining pathway, including the androgen receptor, SRY and the 5-alpha-reductase genes, are well-known, but the origin of other cases remain unresolved. In this report, we introduce our collection of lymphoblastoid lines derived from female patients with a 46,XY karyotype. These cell lines have been deposited and registered with the JCRB Cell Bank. They are available for comparison with other DSD cases and for further characterization of genetic loci involved in the mammalian sex determining pathway.


Patient-derived cell resource EB virus-transformed lymphoblastoid cell line Disorder of sexual development Sex reversal Sex determination 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Japan Human Cell Society and Springer Japan KK, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Japanese Collection of Research Bioresources (JCRB) Cell Bank, Laboratory of Cell CulturesNational Institutes of Biomedical Innovation, Health and NutritionIbarakiJapan
  2. 2.Department of Veterinary MedicineUniversity of CambridgeCambridgeUK

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