A multi-generational Old Order Amish pedigree with high prevalence of Type I BPD was chosen for the current study [7,25,26]. Fig 1 shows the pedigree and associated demographics. Fibroblast cell lines derived from four BPD patients (ABP03, 05, 07 and 11) and four unaffected siblings (ABP04, 06, 08 and 12), were obtained from the NIGMS Human Genetic Cell Repository at Coriell Institute for Medical Research (all samples in this biorepository have fulfilled the required informed consent guidelines detailed at https://catalog.coriell.org/1/NIGMS/About/Submitting-Samples). The 4 BPD patients all received high rating for classic presentation of the disease as determined by special coding of the project Board. Their ages at onset of BPD (Fig 1) are reflective of the range for onset age in the total BPD Amish sample. The unaffected control samples had a similar age range. All controls were well beyond the age of risk for BPD in these families.
