ID   UNIBSi017-A
AC   CVCL_B7EZ
SY   EDS1331-iPSC; EDS1331
DR   BioSamples; SAMEA14099154
DR   hPSCreg; UNIBSi017-A
DR   Wikidata; Q112930522
RX   PubMed=35700636;
CC   From: University of Brescia; Brescia; Italy.
CC   Population: Caucasian.
CC   Karyotypic information: 45,XX,rob(13;14)(q10;q10) (PubMed=35700636).
CC   Sequence variation: Mutation; HGNC; 6859; MAP3K7; Simple; p.Asn245_Gly246insValVal (c.737-7A>G) (IVS7AS,A-G,-7); ClinVar=VCV000974910; Zygosity=Heterozygous (PubMed=35700636).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C188216; Cardiospondylocarpofacial syndrome
DI   ORDO; Orphanet_3238; Cardiospondylocarpofacial syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35700636; DOI=10.1016/j.scr.2022.102837;
RA   Calamaio S., Serzanti M., Morlino S., Massardi M., Ritelli M.,
RA   Piovani G., Colombi M., Cortellini V., Castori M., Dell'Era P.,
RA   Micale L.;
RT   "Generation of the induced pluripotent stem cell line UNIBSi017-A from
RT   an individual with cardiospondylocarpofacial syndrome and the MAP3K7
RT   c.737-7A > G variant.";
RL   Stem Cell Res. 63:102837-102837(2022).
//