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

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=36459969; DOI=10.1016/j.stem.2022.11.004; PMCID=PMC9782786
Pantazis C.B., Yang A., Lara E., McDonough J.A., Blauwendraat C., Peng L.-R., Oguro H., Kanaujiya J., Zou J.-Z., Sebesta D., Pratt G., Cross E., Blockwick J., Buxton P., Kinner-Bibeau L.B., Medura C., Tompkins C., Hughes S., Santiana M., Faghri F., Nalls M.A., Vitale D., Ballard S., Qi Y.A., Ramos D.M., Anderson K.M., Stadler J., Narayan P., Papademetriou J., Reilly L., Nelson M.P., Aggarwal S., Rosen L.U., Kirwan P., Pisupati V., Coon S.L., Scholz S.W., Priebe T., Ottl M., Dong J., Meijer M., Janssen L.J.M., Lourenco V.S., van der Kant R., Crusius D., Paquet D., Raulin A.-C., Bu G.-J., Held A., Wainger B.J., Gabriele R.M.C., Casey J.M., Wray S., Abu-Bonsrah K.D., Parish C.L., Beccari M.S., Cleveland D.W., Li E., Rose I.V.L., Kampmann M., Calatayud Aristoy C., Verstreken P., Heinrich L., Chen M.Y., Schule B., Dou D., Holzbaur E.L.F., Zanellati M.C., Basundra R., Deshmukh M., Cohen S., Khanna R., Raman M., Nevin Z.S., Matia M., Van Lent J., Timmerman V., Conklin B.R., Chase K.J., Zhang K., Funes S., Bosco D.A., Erlebach L., Welzer M., Kronenberg-Versteeg D., Lyu G.-C., Arenas E., Coccia E., Sarrafha L., Ahfeldt T., Marioni J.C., Skarnes W.C., Cookson M.R., Ward M.E., Merkle F.T.
A reference human induced pluripotent stem cell line for large-scale collaborative studies.
Cell Stem Cell 29:1685-1702.e22(2022)