ID   WG0548
AC   CVCL_B4KZ
SY   WG 548
DR   Wikidata; Q110434009
RX   PubMed=1346349;
RX   PubMed=1680289;
RX   PubMed=2567118;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
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; C3962; Adenosine deaminase deficiency
DI   ORDO; Orphanet_277; Severe combined immunodeficiency due to adenosine deaminase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=2567118; PMCID=PMC1715668;
RA   Tzall, Stephanie
RA   Ellenbogen, Amy
RA   Eng, Fay
RA   Hirschhorn, Rochelle
RT   "Identification and characterization of nine RFLPs at the adenosine
RT   deaminase (ADA) locus.";
RL   Am. J. Hum. Genet. 44:864-875(1989).
//
RX   PubMed=1346349; DOI=10.1002/ajmg.1320420213;
RA   Hirschhorn, Rochelle
RA   Ellenbogen, Amy
RA   Tzall, Stephanie
RT   "Five missense mutations at the adenosine deaminase locus (ADA)
RT   detected by altered restriction fragments and their frequency in
RT   ADA- patients with severe combined immunodeficiency (ADA- SCID).";
RL   Am. J. Med. Genet. 42:201-207(1992).
//
RX   PubMed=1680289; PMCID=PMC1683191;
RA   Hirschhorn, Rochelle
RA   Chakravarti, Vijay
RA   Puck, Jennifer M.
RA   Douglas, Steven D.
RT   "Homozygosity for a newly identified missense mutation in a patient
RT   with very severe combined immunodeficiency due to adenosine deaminase
RT   deficiency (ADA-SCID).";
RL   Am. J. Hum. Genet. 49:878-885(1991).
//