• Mutation; HGNC; HGNC:18037; ARID2; Simple_corrected; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36459969).
  
• Mutation; HGNC; HGNC:2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
  
• Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
  

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)

PubMed=38518401; DOI=10.1016/j.scr.2024.103395
Binder S., Ramachandran H., Haslinger D., Hildebrandt B., Dobner J., Haarmann-Stemmann T., Chiocchetti A.G., Rossi A.
CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: a model for investigating human ACTB loss-of-function and genetic adaptive responses.
Stem Cell Res. 77:103395-103395(2024)