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Cellosaurus SDQLCHi021-A (CVCL_YK82)

[Text version]

Cell line name SDQLCHi021-A
Accession CVCL_YK82
Resource Identification Initiative To cite this cell line use: SDQLCHi021-A (RRID:CVCL_YK82)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 24525; MMACHC; Simple; p.Ile150Pro (c.448_449delinsCC); Zygosity=Heterozygous (PubMed=32058304).
Mutation; HGNC; 24525; MMACHC; Simple; p.Arg161Gln (c.482G>A); ClinVar=VCV000001425; Zygosity=Heterozygous (PubMed=32058304).
Disease Methylmalonic aciduria and homocystinuria, cblC type (NCIt: C142174)
Methylmalonic acidemia with homocystinuria, type cblC (ORDO: Orphanet_79282)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell

PubMed=32058304; DOI=10.1016/j.scr.2020.101709
Guan J.-Y., Li Z.-L., Zhang H.-Y., Yang X.-M., Ma Y.-Y., Li Y., Dong R., Gai Z.-T., Liu Y.
Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMACHC gene.
Stem Cell Res. 43:101709-101709(2020)

Cell line databases/resources hPSCreg; SDQLCHi021-A
SKIP; SKIP005642
Encyclopedic resources Wikidata; Q98129485
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number5