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; 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: 19-12-24; Version: 5
//
RX   PubMed=35700636; DOI=10.1016/j.scr.2022.102837;
RA   Calamaio, Serena
RA   Serzanti, Marialaura
RA   Morlino, Silvia
RA   Massardi, Marialuisa
RA   Ritelli, Marco
RA   Piovani, Giovanna
RA   Colombi, Marina
RA   Cortellini, Venusia
RA   Castori, Marco
RA   Dell'Era, Patrizia
RA   Micale, Lucia
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).
//