Induced pluripotent stem cell line generated from a patient with differences in sex development (DSD) and multiple genetic variants including a large deletion in NR5A1
The nuclear receptor subfamily 5, Group A, Member 1 (NR5A1) gene encodes steroidogenic factor 1 (SF1), which is necessary for development of steroid hormone-producing tissues including the gonad and adrenal gland. An induced pluripotent stem cell line (iPSC) LCHi002-B was generated from a participan...
Main Authors: | Aisha L. Siebert, Grace B. Schwartz, Hana Kubo, Monica M. Laronda |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2023-09-01
|
Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S187350612300140X |
Similar Items
-
Generation of two human induced pluripotent stem cell lines from a patient with complete androgen insensitivity syndrome with a hemizygous single nucleotide variant in the androgen receptor (AR) gene
by: Grace B. Schwartz, et al.
Published: (2021-08-01) -
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
by: Slimane Allali, et al.
Published: (2011-01-01) -
Is It Beneficial to Patients to Include Congenital Adrenal Hyperplasia (CAH) Among the Disorders of Sex Development (DSD)?
by: Ricardo González, et al.
Published: (2018-11-01) -
GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes
by: Idoia Martinez de LaPiscina, et al.
Published: (2018-04-01) -
From Intersex to DSD: the Disciplining of Sex Development
by: CATHERINE CLUNE-TAYLOR
Published: (2010-12-01)