ID   HPSI0114i-kolf_2-C1
AC   CVCL_9S58
SY   HPSI0114i-Kolf_2-C1; KOLF2-C1; WTSIi018-B-1; WTSIi018-C; WTSIi043-A
DR   BioSamples; SAMEA7996638
DR   hPSCreg; WTSIi018-B-1
DR   SKIP; SKIP002606
DR   Wikidata; Q54890432
RX   PubMed=31216442;
RX   PubMed=36459969;
CC   From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; 18037; ARID2; Simple; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous (PubMed=31216442).
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=31216442).
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (PubMed=31216442).
CC   Omics: Genome sequenced.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_AE29 ! HPSI0114i-kolf_2
SX   Male
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 11
//
RX   PubMed=31216442; DOI=10.1016/j.ymeth.2019.06.016;
RA   Skarnes W.C., Pellegrino E., McDonough J.A.;
RT   "Improving homology-directed repair efficiency in human stem cells.";
RL   Methods 164:18-28(2019).
//
RX   PubMed=36459969; DOI=10.1016/j.stem.2022.11.004;
RA   Pantazis C.B., Yang A., Lara E., McDonough J.A., Blauwendraat C.,
RA   Peng L.-R., Oguro H., Kanaujiya J., Zou J.-Z., Sebesta D., Pratt G.,
RA   Cross E., Blockwick J., Buxton P., Kinner-Bibeau L.B., Medura C.,
RA   Tompkins C., Hughes S., Santiana M., Faghri F., Nalls M.A., Vitale D.,
RA   Ballard S., Qi Y.A., Ramos D.M., Anderson K.M., Stadler J.,
RA   Narayan P., Papademetriou J., Reilly L., Nelson M.P., Aggarwal S.,
RA   Rosen L.U., Kirwan P., Pisupati V., Coon S.L., Scholz S.W., Priebe T.,
RA   Ottl M., Dong J., Meijer M., Janssen L.J.M., Lourenco V.S.,
RA   van der Kant R., Crusius D., Paquet D., Raulin A.-C., Bu G.-J., Held A.,
RA   Wainger B.J., Gabriele R.M.C., Casey J.M., Wray S., Abu-Bonsrah K.D.,
RA   Parish C.L., Beccari M.S., Cleveland D.W., Li E., Rose I.V.L.,
RA   Kampmann M., Calatayud Aristoy C., Verstreken P., Heinrich L.,
RA   Chen M.Y., Schule B., Dou D., Holzbaur E.L.F., Zanellati M.C.,
RA   Basundra R., Deshmukh M., Cohen S., Khanna R., Raman M., Nevin Z.S.,
RA   Matia M., Van Lent J., Timmerman V., Conklin B.R., Chase K.J.,
RA   Zhang K., Funes S., Bosco D.A., Erlebach L., Welzer M.,
RA   Kronenberg-Versteeg D., Lyu G.-C., Arenas E., Coccia E., Sarrafha L.,
RA   Ahfeldt T., Marioni J.C., Skarnes W.C., Cookson M.R., Ward M.E.,
RA   Merkle F.T.;
RT   "A reference human induced pluripotent stem cell line for large-scale
RT   collaborative studies.";
RL   Cell Stem Cell 29:1685-1702.e22(2022).
//