ID   WG3733
AC   CVCL_B3Y7
DR   Wikidata; Q110434379
RX   PubMed=20524213;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:16692; CD320; Simple; p.Glu88del (c.256GAG[2]) (c.262_264delGAG); ClinVar=VCV000203643; Zygosity=Homozygous (PubMed=20524213).
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C183527; Methylmalonic acidemia, TcblR type
DI   ORDO; Orphanet_280183; Methylmalonic aciduria due to transcobalamin receptor defect
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
AG   Children
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
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RX   PubMed=20524213; DOI=10.1002/humu.21297; PMCID=PMC2909035;
RA   Quadros E.V., Lai S.-C., Nakayama Y., Sequeira J.M., Hannibal L.,
RA   Wang S.-H., Jacobsen D.W., Fedosov S., Wright E., Gallagher R.C.,
RA   Anastasio N., Watkins D., Rosenblatt D.S.;
RT   "Positive newborn screen for methylmalonic aciduria identifies the
RT   first mutation in TCblR/CD320, the gene for cellular uptake of
RT   transcobalamin-bound vitamin B(12).";
RL   Hum. Mutat. 31:924-929(2010).
//