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Cellosaurus SDQLCHi003-A (CVCL_XC39)

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Cell line name SDQLCHi003-A
Accession CVCL_XC39
Resource Identification Initiative To cite this cell line use: SDQLCHi003-A (RRID:CVCL_XC39)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2962; DYNC2H1; Simple; p.Trp314Arg (c.940T>C); Zygosity=Heterozygous (PubMed=31415973).
  • Mutation; HGNC; HGNC:2962; DYNC2H1; Simple; p.Pro3388Leu (c.10163C>T) (p.Pro3381Leu, c.10142C>T); ClinVar=VCV000439631; Zygosity=Heterozygous (PubMed=31415973).
Disease Short-rib thoracic dysplasia 3 with or without polydactyly (NCIt: C163755)
Short rib-polydactyly syndrome, Saldino-Noonan type (ORDO: Orphanet_93270)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y3M
Category Induced pluripotent stem cell
Publications

PubMed=31415973; DOI=10.1016/j.scr.2019.101505
Hai-Yan Zhang, Yan-Yan Ma, Feng-Ling Song, Xiao-Meng Yang, Yue Li, Jing-Yun Guan, Yu-Qiang Lv, Min Gao, Jian Ma, Yi Liu, Zhong-Tao Gai;
Generation of an induced pluripotent stem cell line (SDQLCHi003-A) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1.
Stem Cell Res. 39:101505-101505(2019)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi003-A
SKIP; SKIP005553
Encyclopedic resources Wikidata; Q98129448
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number9