ID   SDUBMSi011-A
AC   CVCL_A7JF
DR   hPSCreg; SDUBMSi011-A
DR   Wikidata; Q107116906
RX   PubMed=33892290;
CC   From: School of Basic Medical Sciences, Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 20323; SMOC2; Simple; p.Leu359Arg (c.1076T>G); Zygosity=Heterozygous (PubMed=33892290).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   ORDO; Orphanet_251; Multiple epiphyseal dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=33892290; DOI=10.1016/j.scr.2021.102353;
RA   Long F., Liu X.-L., Liu Y., Liu Q.-J., Sun W.-J.;
RT   "An iPS cell line SDUBMSi0011-A from a multiple epiphyseal dysplasia
RT   patient carrying c. 1076T > G mutation in the SMOC2 gene.";
RL   Stem Cell Res. 53:102353-102353(2021).
//