• Mutation; HGNC; HGNC:18037; ARID2; Simple; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous (PubMed=31216442; PubMed=31813827).
  
• Mutation; HGNC; HGNC:2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=31216442; PubMed=31813827).
  
• Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (PubMed=31216442; PubMed=31813827).
  

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Common genetic variation drives molecular heterogeneity in human iPSCs.
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PubMed=31216442; DOI=10.1016/j.ymeth.2019.06.016
Skarnes W.C., Pellegrino E., McDonough J.A.
Improving homology-directed repair efficiency in human stem cells.
Methods 164:18-28(2019)

PubMed=31813827; DOI=10.1016/j.stemcr.2019.11.003; PMCID=PMC6915802
Hildebrandt M.R., Reuter M.S., Wei W., Tayebi N., Liu J.-J., Sharmin S., Mulder J., Lesperance L.S., Brauer P.M., Mok R.S.-F., Kinnear C., Piekna A., Romm A., Howe J., Pasceri P., Meng G.-L., Rozycki M., Rodrigues D.C., Martinez E.C., Szego M.J., Zuniga-Pflucker J.C., Anderson M.K., Prescott S.A., Rosenblum N.D., Kamath B.M., Mital S., Scherer S.W., Ellis J.
Precision health resource of control iPSC lines for versatile multilineage differentiation.
Stem Cell Reports 13:1126-1141(2019)