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Cellosaurus SDQLCHi008-A (CVCL_XI75)

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Cell line name SDQLCHi008-A
Accession CVCL_XI75
Resource Identification Initiative To cite this cell line use: SDQLCHi008-A (RRID:CVCL_XI75)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:14262; AUTS2; Unexplicit; Ex1del; Zygosity=Heterozygous; Note=De novo mutation (PubMed=31505389).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=31505389; DOI=10.1016/j.scr.2019.101557
Xiao-Meng Yang, Tian-Cheng Zhou, Hai-Yan Zhang, Yue Li, Rui Dong, Ning Liu, Guang-Jin Pan, Yi Liu, Zhong-Tao Gai;
Generation of an induced pluripotent stem cell line (SDQLCHi008-A) from a patient with ASD and DD carrying an 830kb de novo deletion at chr7q11.22 including the exon 1 of AUTS2 gene.
Stem Cell Res. 40:101557-101557(2019)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi008-A
SKIP; SKIP005560
Encyclopedic resources Wikidata; Q98129462
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number7