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Cellosaurus SMCPGi001-A (CVCL_B3SK)

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Cell line name SMCPGi001-A
Synonyms SMCPGHi-HNRNPH2
Accession CVCL_B3SK
Resource Identification Initiative To cite this cell line use: SMCPGi001-A (RRID:CVCL_B3SK)
Comments From: The Seven Medical Center of PLA General Hospital; Beijing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:5042; HNRNPH2; Simple; p.Arg206Trp (c.616C>T); ClinVar=VCV000225760; Zygosity=Heterozygous; Note=De novo mutation (PubMed=34763229).
Disease Intellectual developmental disorder, X-linked, syndromic, Bain type (NCIt: C183311)
X-linked non-syndromic intellectual disability (ORDO: Orphanet_777)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=34763229; DOI=10.1016/j.scr.2021.102571
Xiu-Wei Ma, Li-Na Zhu, Wang-Yang Chen, Min Sheng, Fu-Jun Peng, Ming Liang, Yu-Xiang Zhao, Yong-Xia Wang, Zhi-Chun Feng;
Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation.
Stem Cell Res. 57:102571-102571(2021)

Cross-references
Encyclopedic resources Wikidata; Q110433241
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number6