Repository series · ncbi-prjna260607
Human Exome sequence of a POF family
A Saudi Arabia family. The parents are first cousins. 3 daughters have primary amenorrhea, hypothyroidism and hypergonadotropic hypogonadism. Our study find a new MCM8 gene autosomal recessive mutation is related to the affected daughters endocrine dysfunction and genomic instability.
The accession and its GCC connection are verified. Registration alone does not establish that the broader research programme remains active.
01 / Project overview
What the record establishes.
- Geographic scope
- Saudi Arabia connection indexed in BioProject metadata
- Project type
- Repository project
- Research domain
- Human health and population genomics
- Years
- 2014–
- Lifecycle status
- repository_recorded
- Status basis
- Registered in NCBI BioProject on 2014/09/09; operational lifecycle is not asserted.
- Status evidence date
- 2014-09-09
- Scale
- 1 BioProject accession grouped by matching submitter, date, data type and narrative.
02 / Organizations and population
Who and what the project connects.
- Lead organizations
- Magee-Womens Research Institute
- Partner organizations
- Not stated
- Organism / population
- Homo sapiens
03 / Data and access
What exists and how it can be reached.
Data types
- Exome
- Sequencing
- Genome
Data access
Public repository metadata with linked data where supplied by the submitter
Identifiers
- BioProject
PRJNA260607
04 / Evidence and provenance
Why the record is included.
Inclusion basis
Exact country-name match in authoritative NCBI BioProject metadata; repeated submissions are grouped into one Atlas series.
Editorial note
Repository verification confirms the accession and regional connection, not whether the broader research programme remains active.
Sources
- primary record source Verified 2026-08-15
Release v0.2.0