ID   ICGi035-A
AC   CVCL_B3UB
SY   iCS-MAF1-1
DR   BioSamples; SAMEA10768636
DR   hPSCreg; ICGi035-A
DR   Wikidata; Q110432911
RX   PubMed=35026660;
CC   From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
CC   Sequence variation: Mutation; HGNC; 2183; VPS13B; Simple; c.3870+1G>T; ClinVar=VCV000559917; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=35026660).
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)
OI   CVCL_B3UC ! ICGi035-B
SX   Female
AG   Adult
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35026660; DOI=10.1016/j.scr.2021.102648;
RA   Chechetkina S.A., Khabarova A.A., Chvileva A.S., Kurchenko O.M.,
RA   Smirnov A.V., Yunusova A.M., Kotov I.N., Musatova E.V.,
RA   Pomerantseva E.A., Volovikov E.A., Lagarkova M.A., Shnaider T.A.,
RA   Pristyazhnyuk I.E.;
RT   "Generation of two iPSC lines from healthy donor with a heterozygous
RT   mutation in the VPS13B gene.";
RL   Stem Cell Res. 59:102648-102648(2021).
//