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Cell Line	Cell Line Alias	Cell Type	Disease	Genetic Alteration/Mutation	Sex	Age at Collection	Ethnicity	Genetically Related Cell Lines	dbGaP Data
PACS1001i-GM27160		Human iPS	None reported		Female	39 Years	Asian > Indian	Yes	No
PACS1002i-GM27159		Human iPS	PACS1 (Schuurs-Hoeijmakers) syndrome	DNA PCR dideoxyterminator sequencing performed on DNA obtained from a buccal specimen found a pathogenic de novo heterozygous, missense variant (c.607C>T, p.Arg203Trp) in exon 4 of the PACS1 gene (NM_018026.3); genomic variant is Chr11: 65978677C>T (GRCh37/hg19).	Female	3 Years	Caucasian > European Asian > Indian	Yes	No
PACS1003i-GM27161		Human iPS	PACS1 (Schuurs-Hoeijmakers) syndrome	Genomic whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in exon 4 of the PACS1 gene: p.R203W (c.607C>T).	Male	6 Years	Caucasian > European	No	No
PACS2iPS01-C5		Human iPS	PACS2 Syndrome	Whole exome sequencing revealed a de novo autosomal dominant heterozygous pathogenic variant in the PACS2 gene: p.Glu209Lys/p.E209K (c.625G>A)	Female	10 Months	Caucasian	No	No
PENN001i-87-2	iPS-87-098-SeV2	Human iPS	None reported		Female	29 Years	Caucasian	No	No
PENN002i-442-1	iPS-442-SeV1	Human iPS	None reported		Female	24 Years	Caucasian	No	No
PENN003i-661-4	661-SeV4	Human iPS	None reported		Male	40 Years	African American	No	No
PENN004i-277-1	iPS-277-SeV1	Human iPS	None reported		Male	37 Years	Caucasian	No	No
PENN005i-35-3	iPS-35-1360-010-SeV3	Human iPS	None reported		Male	30 Years	Caucasian	No	No
PENN006i-149-1	iPS-149-SeV1	Human iPS	None reported		Female	27 Years	Caucasian	No	No

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